Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report.

RATIONALE: Retinitis pigmentosa with or without skeletal abnormalities (RPSKA) is an autosomal recessive disorder caused by mutations in the CWC27 gene. Skeletal dysplasia and non-syndromic retinitis pigmentosa are typical manifestations, and most patients present with retinopathy such as retinitis pigmentosa and limited visual field. Its clinical manifestations are complex and diverse, often involving multiple systems. Examples include short finger deformities, peculiar facial features, short stature, and neurodevelopmental abnormalities, and it is easy to misdiagnose clinically, and early diagnosis is crucial for prognosis. PATIENT CONCERNS: A 2-year and 2-month-old female child was admitted to the hospital due to "unsteady walking alone and slow reaction for more than half a year." After admission, the child was found to have delayed motor development, accompanied by special face, abnormal physical examination of the nervous system, cranial MRI Dandy-Walker malformation, considering developmental delay. DIAGNOSES: Whole exome sequencing of the family line revealed the presence of a c.617(exon7)C>A pure mutation in the CWC27 gene in the affected child (this locus has been reported in the clinical literature); the final diagnosis is RPSKA. INTERVENTIONS: Unfortunately, there is no specific drug for the disease; we give children rehabilitation training treatment. OUTCOMES: During follow-up process we found that children's condition is better than before. LESSONS SUBSECTIONS AS PER STYLE: We reported a case of RPSKA caused by mutations in the CWC27 gene. This study adds to our understanding of the clinical phenotype of TBL1XR1 mutations and provides a realistic and reliable basis for clinicians.

Thermally Conductive Magnetic Composite Phase Change Materials for Anisotropic Photo/Magnetic-to-Thermal Energy Conversion.

The distinctive thermal energy storage properties of phase change materials (PCMs) are critical for solving energy issues. However, their inherently low thermal conductivity and limited energy conversion capability impede their applications in advanced thermal energy harvesting and storage systems. Herein, we developed magnetic composite PCMs with enhanced thermal conductivity for anisotropic photothermal and magnetic-to-thermal energy conversions. The hierarchically interconnected ferroferric oxide-coated boron nitride/poly(vinyl alcohol) (BN@Fe3O4/PVA) porous scaffolds were constructed by a unidirectional freeze-casting method to enhance the directional heat transfer capability of the composite PCMs with a through-plane thermal conductivity of 1.84 W m-1 K-1 at a BN@Fe3O4 loading of 25.4 wt %. The superparamagnetic Fe3O4 nanoparticles endow the composite PCMs with unique solar absorption and magnetic response properties, and the energy conversion efficiency can be regulated by controlling the orientation of the synthesized magnetic particles in the composite PCMs. As a consequence, the resulting composite PCMs exhibit superior photo/magnetic-to-thermal energy conversion efficiency along the direction of orientation of magnetic particles. These novel findings provide an instructive guide to yield composite PCMs for efficient energy conversion.

Eosinophilic granuloma of the clavicle in an 11-year-old Chinese girl: A case report.

RATIONALE: Eosinophilic granuloma (EG) - the most common form of Langerhans cell histiocytosis - occurs rarely, and manifestations with only rib and clavicle involvement are extremely rare. EG symptoms often include pain, swelling, and soft tissue mass. The clinical diagnosis of bone EG is complex, and the differential diagnosis includes Ewing sarcoma, tuberculosis, multiple myeloma, lymphoma, primary bone malignancy, and other osteolytic lesions. PATIENTS CONCERN: The patient was an 11-year-old female who found a subcutaneous mass at the junction of the right clavicle and sternum 2 days before presenting at the clinic without apparent triggers. Initially, we considered a subcutaneous cyst or inflammatory mass. Color ultrasound and computed tomography examination revealed osteomyelitis. Finally, the patient was diagnosed with EG after a pathological tissue biopsy, and the child recovered after surgery and anti-infective treatment. DIAGNOSIS: The patient underwent surgery to remove the tumor at a specialist hospital and was diagnosed with EG by pathological examination. INTERVENTION: The patient went to a specialist hospital for surgery to remove the mass and underwent anti-infective treatment. OUTCOMES: The patient recovered after surgical resection and antibiotic treatment. LESSONS: In this report, we emphasize that the clinical presentation of EG in children is not specific. Furthermore, examining age, history, presence of symptoms, and the number of sites is essential to make a correct diagnosis, and a histological examination is necessary to confirm the diagnosis.

Aicardi-Goutières syndrome type 7 in a Chinese child: A case report.

BACKGROUND: IFIH1 is a protein-coding gene. Disorders associated with IFIH1 include Aicardi-Goutières syndrome (AGS) type 7 and Singleton-Merten syndrome type 1. Related pathways include RIG-I/MDA5-mediated induction of the interferon (IFN)-α/ß pathway and the innate immune system. AGS type 7 is an autosomal dominant inflammatory disorder characterized by severe neurological impairment. In infancy, most patients present with psychomotor retardation, axial hypotonia, spasticity, and brain imaging changes Laboratory assessments showed increased IFN-α activity with upregulation of IFN signaling and IFN-stimulated gene expression. Some patients develop normally in the early stage, and then have episodic neurological deficits. CASE SUMMARY: The 5-year-old girl presented with postpartum height and weight growth retardation, language retardation, brain atrophy, convulsions, and growth hormone deficiency. DNA samples were obtained from peripheral blood from the child and her parents for whole-exome sequencing and test of genome-wide copy number variation. Heterozygous mutations in the IFIH1 gene were found. Physical examination at admission found that language development was delayed, the reaction to name calling was average, there was no communication with people, but there was eye contact, no social smile, and no autonomous language. However, the child had rich gesture language and body language, could understand instructions, had bad temper. When she wants to achieve something, she starts crying or shouting. Cardiopulmonary examination showed no obvious abnormality, and abdominal examination was normal. Bilateral muscle strength and muscle tone were symmetrical and slightly decreased. Physiological reflexes exist, but pathological reflexes were not elicited. CONCLUSION: We reported the clinical characteristics of a Chinese child with a clinical diagnosis of AGS type 7, which expanded the mutational spectrum of the IFIH1 gene.

A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.

BACKGROUND: TBL1XR1, also known as IRA1 or TBLR1, encodes a protein that is localized in the nucleus and is expressed in most tissues. TBL1XR1 binds to histones H2B and H4 in vitro and functions in nuclear receptor-mediated transcription. TBL1XR1 is also involved in the regulation of the Wnt-ß-catenin signaling pathway. Mutations in the TBL1XR1 gene impair the Wnt-ß-catenin signaling pathway's ability to recruit Wnt-responsive element chromatin, affecting brain development. Mutations in this gene cause various clinical phenotypes, including Pierpont syndrome, autism spectrum disorder, speech and motor delays, mental retardation, facial dysmorphism, hypotonia, microcephaly, and hearing impairment. CASE SUMMARY: A 5-month-old female child was admitted with "episodic limb tremors for more than 1 month." At the time of admission, the child had recurrent episodes of limb tremors with motor retardation and a partially atypical and hypsarrhythmic video electroencephalogram. It was determined that a heterozygous mutation in the TBL1XR1 gene caused West syndrome and global developmental delay. Recurrent episodes persisted for 6 months following oral treatment with topiramate; the addition of oral treatment with vigabatrin did not show any significant improvement, and the disease continued to recur. The child continued to have recurrent episodes of limb tremors at follow-up until 1 year and 3 months of age. Additionally, she developed poor eye contact and a poor response to name-calling. CONCLUSION: We report the case of a child with West syndrome and a global developmental delay caused by a heterozygous mutation in the TBL1XR1 gene. This study adds to our understanding of the clinical phenotype of TBL1XR1 mutations and provides a realistic and reliable basis for clinicians.

Children with infectious pneumonia caused by Ralstonia insidiosa: A case report.

BACKGROUND: Ralstonia is a Gram-negative non-fermentative bacterium widespread in nature, and includes four species, Ralstonia pickettii, Ralstonia solanacearum, Ralstonia mannitolilytica, and Ralstonia insidiosa, which were proposed in 2003. Ralstonia is mainly found in the external water environment, including municipal and medical water purification systems. This bacterium has low toxicity and is a conditional pathogen. It has been reported in recent years that infections due to Ralstonia are increasing. Previous studies have shown that most cases of infection are caused by Ralstonia pickettii, a few by Ralstonia mannitolilytica, and infections caused by Ralstonia insidiosa are rare. CASE SUMMARY: A 2-year-old Chinese child suffered from intermittent fever and cough for 20 d and was admitted to hospital with bronchial pneumonia. Bronchoscopy and alveolar lavage fluid culture confirmed Ralstonia insidiosa pneumonia. The infection was well controlled after treatment with meropenem and azithromycin. CONCLUSION: Ralstonia infections are increasing, and we report a rare case of Ralstonia insidiosa infection in a child. Clinicians should be vigilant about Ralstonia infections.

Characterization and phylogenetic analysis of complete chloroplast genome of cultivated Qinan agarwood / 中国中药杂志

"Tangjie" leaves of cultivated Qinan agarwood were used to obtain the complete chloroplast genome using high-throughput sequencing technology. Combined with 12 chloroplast genomes of Aquilaria species downloaded from NCBI, bioinformatics method was employed to determine the chloroplast genome characteristics and phylogenetic relationships. The results showed that the chloroplast genome sequence length of cultivated Qinan agarwood "Tangjie" leaves was 174 909 bp with a GC content of 36.7%. A total of 136 genes were annotated, including 90 protein-coding genes, 38 tRNA genes, and 8 rRNA genes. Sequence repeat analysis detected 80 simple sequence repeats(SSRs) and 124 long sequence repeats, with most SSRs composed of A and T bases. Codon preference analysis revealed that AUU was the most frequently used codon, and codons with A and U endings were preferred. Comparative analysis of Aquilaria chloroplast genomes showed relative conservation of the IR region boundaries and identified five highly variable regions: trnD-trnY, trnT-trnL, trnF-ndhJ, petA-cemA, and rpl32, which could serve as potential DNA barcodes specific to the Aquilaria genus. Selection pressure analysis indicated positive selection in the rbcL, rps11, and rpl32 genes. Phylogenetic analysis revealed that cultivated Qinan agarwood "Tangjie" and Aquilaria agallocha clustered together(100% support), supporting the Chinese origin of Qinan agarwood from Aquilaria agallocha. The chloroplast genome data obtained in this study provide a foundation for studying the genetic diversity of cultivated Qinan agarwood and molecular identification of the Aquilaria genus.

Retrospective analysis of strabismus surgery in adolescents and children in Yunnan province / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To analyze the strabismus surgery situation of adolescents and children in Yunnan province.METHODS: A retrospective analysis was conducted on medical records data of 3 068 adolescents and children who received strabismus surgery at Affiliated Hospital of Yunnan University from January 2017 to December 2021. The analysis included gender, constituent ratio of age, distribution of strabismus types and combination with other ocular diseases, etc.RESULTS: Among the included patients, 52.12% were males, and 47.88% were females. Preschool patients(1 to 6 years old)accounted for 32.89%, primary pupils(7 to 12 years old)accounted for 45.89% and high school students(13 to 18 years old)accounted for 21.22%. Exotropia accounted for 63.17% of the total strabismus, of which intermittent exotropia was the most common type. Esotropia accounted for 19.69%, and concomitant esotropia was the most common type. The special type of strabismus accounted for 17.14%, and A-V syndrome and dissociative vertical deviation(DVD)were the most common types. Strabismus combined with ametropia accounted for 61.02% and amblyopia accounted for 10.89%. A few patients also combined with other eye diseases.CONCLUSION: In Yunnan province, intermittent exotropia was the most common type of strabismus among adolescents and children. Some patients combined with other ocular diseases.

Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report.

BACKGROUND: The VPS33B (OMIM: 608552) gene is located on chromosome 15q26.1. We found a female infant with autosomal recessive arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) caused by mutation in VPS33B. The child was diagnosed with ARCS1 (OMIM: 208085) after the whole exome sequencing revealed two heterozygous mutations (c.96+1G>C, c.242delT) in the VPS33B gene. CASE SUMMARY: We report a Chinese female infant with neonatal cholestasis disorder, who was eventually diagnosed with ARCS1 by genetic analysis. Genetic testing revealed two new mutations (c.96+1G>C and c.242delT) in VPS33B, which is the causal gene. The patient was compound heterozygous, and her parents were both heterozygous. CONCLUSION: This study extends the mutational spectrum of the VPS33B gene to provide a molecular basis for the etiological diagnosis of ARCS1 and for genetic counseling of the family.

A randomized, double-blind, placebo-controlled multicenter clinical trial of Xiehuang Jiejing granule in the treatment of cough variant asthma in children.

BACKGROUND: Cough variant asthma (CVA), also called concealed asthma or allergic asthma, is the most common cause of chronic cough in children. The disorder is mainly characterized by a nonproductive dry cough associated with a high recurrence rate that is conventionally treated with antibiotics, anti-inflammatory medications, cough suppressants, or expectorants. For millennia, Chinese herbal medicine (CHM) has been used widely in China to treat pediatric CVA cases, although high-quality evidence of CHM efficacy is lacking. In this study, the effectiveness and safety of Xiehuangjiejing (XHJJ) granule will be evaluated when used alone to treat children with CVA. METHODS AND ANALYSIS: A randomized, double-blind, parallel, placebo-controlled multicenter trial will be conducted over the course of 2 weeks. A total of 180 CVA patients of ages between 4 and 7 years old will be randomly assigned to the experimental group (XHJJ granules, 4.5 g administered 3 times daily) or control group (matched placebo, 4.5 g administered 3 times daily) in a 2:1 ratio based on subject number per group, respectively. The trial will consist of a 7-day medical interventional stage and a 7-day follow-up stage. On day 7 of the follow-up stage, an evaluation of all subjects will be carried out to assess cough symptom score as the primary outcome and several secondary outcomes, including TCM (traditional Chinese medicine) syndrome score, lung function, and dosage of salbutamol aerosol inhaler therapy. Safety assessments will also be evaluated during the trial. DISCUSSION: The aim of this study was to examine the effectiveness and safety of Xiehuangjiejing (XHJJ) granule using a trial protocol designed to yield high-quality, statistically robust results for use in evaluating CHM as a treatment for CVA in children.

Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report.

BACKGROUND: Combined pituitary hormone deficiency 3 (CPHD3; OMIM: 221750) is caused by mutations within the LHX3 gene (OMIM: 600577), which located on the subtelomeric region of chromosome 9 at band 9q34.3, has seven coding exons and six introns. LIM homeobox (LHX) 3 protein is the key regulator of pituitary development in fetal life. CASE SUMMARY: We have diagnosed and treate an 11-year-old boy with combined pituitary hormone deficiency (CPHD). The main clinical manifestations were pituitary hormone deficiency, hydrocele of the tunica vaginalis, pituitary dwarfism, gonadal dysplasia, micropenis, clonic convulsion, and mild facial dysmorphic features. We collected peripheral blood from the patient, the patient's older brother, as well as their parents, and sequenced them by using high-throughput whole-exosome sequencing, which was verified by Sanger sequencing. The results showed that there were two compound heterozygous variants of c.613G>C (p.V205L) and c.220T>C (p.C74R) in the LHX3 gene. c.613G>C (p.V205L) was inherited from his mother and c.220T>C (p.C74R) from his father. His brother also has both variants and symptoms. CONCLUSION: This study reported ununreported genetic mutations of LHX3, and recorded the treatment process of the patients, providing data for the diagnosis and treatment of CPHD.

Retroperitoneal leiomyoma located in the broad ligament: A case report.

BACKGROUND: Retroperitoneal leiomyoma is a rare benign tumor. Retroperitoneal leiomyomas located in the latissimus uterine ligament are even rarer. Retroperitoneal leiomyomas have similar characteristics to uterine leiomyomas in terms of tissue, which results in confusion during diagnosis. CASE SUMMARY: A 47-year-old female with 3 years of pain in the right lower quadrant and discovery of a pelvic mass 13 d ago underwent open abdominal exploration. In the right broad ligament, a solid mass with well circumscribed boundaries, approximately 15 cm × 10 cm × 10 cm in size was bluntly peeled off. The pathological result was a spindle cell tumor, morphologically considered to originate from smooth muscle. Immunohistochemical results supported a deep soft tissue leiomyoma. CONCLUSION: Retroperitoneal leiomyoma is a rare benign tumor, and surgical treatment can have a good therapeutic effect.

VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report.

BACKGROUND: The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults, which can occur at any time in life, often associated with neurological dysfunction, and lead to chronic disability and premature death. Approximately one-third of patients with mitochondrial disease have biochemical defects involving multiple respiratory chain complexes, suggesting defects in protein synthesis within the mitochondria. We here report a child with VARS2 gene mutations causing mitochondrial disease. CASE SUMMARY: A girl, aged 3 years and 4 mo, had been unable to sit and crawl alone since birth, with obvious seizures and microcephaly. Brain magnetic resonance imaging showed symmetrical, flaky, long T1-weighted and low T2-weighted signals in the posterior part of the bilateral putamen with a high signal shadow. T2 fluid-attenuated inversion recovery imaging showed a slightly high signal and diffusion-weighted imaging showed an obvious high signal. Whole-exome gene sequencing revealed a compound heterozygous mutation in the VARS2 gene, c.1163(exon11)C>T and c.1940(exon20)C>T, which was derived from the parents. The child was diagnosed with combined oxidative phosphorylation deficiency type 20. CONCLUSION: In this patient, mitochondrial disorders including Leigh syndrome and MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) were ruled out, and combined oxidative phosphorylation deficiency type 20 was diagnosed, expanding the phenotypic spectrum of the disease.

Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report.

BACKGROUND: Xia-Gibbs syndrome (XGS, OMIM: 615829), caused by mutations within the AT-Hook DNA-binding motif-containing protein 1 (AHDC1) gene (OMIM: 615790), located on the short arm of chromosome 1 within the cytogenetic band 1p36.11, contains five noncoding 5 exons, a single 4.9-kb coding exon, and a noncoding 3 exon. CASE SUMMARY: In this case report, we diagnosed and treated a 6-mo-old girl with XGS. The primary clinical symptoms included global developmental delay, hypotonia, and mild dysmorphic features. Using high-throughput whole-exosome sequencing to sequence the patient and her parents, and the results showed a novel frameshift mutation of c.1155dupG (p.Arg386Alafs*3) in the AHDC1 gene. The paternal gene was wild type. CONCLUSION: This report extends the mutation spectrum of the AHDC1 gene to provide the diagnostic basis for genetic counseling in families with XGS.

Clinical manifestations and gene analysis of Hutchinson-Gilford progeria syndrome: A case report.

BACKGROUND: This case report describes a child with Hutchinson-Gilford progeria syndrome (HGPS, OMIM: 176670) caused by LMNA (OMIM: 150330) gene mutation, and we have previously analyzed the clinical manifestations and imaging characteristics of this case. After 1-year treatment and follow-up, we focus on analyzing the changes in the clinical manifestations and genetic diagnosis of the patient. CASE SUMMARY: In April 2020, a 2-year-old boy with HGPS was found to have an abnormal appearance, and growth and development lagged behind those of children of the same age. The child's weight did not increase normally, the veins of the head were clearly visible, and he had shallow skin color and sparse yellow hair. Peripheral blood DNA samples obtained from the patient and his parents were sequenced using high-throughput whole-exosome sequencing, which was verified by Sanger sequencing. The results showed that there was a synonymous heterozygous mutation of C.1824 C>T (P. G608G) in the LMNA gene. CONCLUSION: Mutation of the LMNA gene provides a molecular basis for diagnosis of HGPS and genetic counseling of the family.

Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report.

BACKGROUND: This case report describes a novel genotypic and phenotypic presentation of Alazami-Yuan syndrome, and contributes to the current knowledge on the condition. CASE SUMMARY: We report an 11-year-old boy with Alazami-Yuan syndrome. The main clinical manifestations were rapid development of puberty, typical facial features of Cornelia de Lange syndrome, and normal intelligence. Peripheral blood DNA samples obtained from the patient and his parents were sequenced using high-throughput whole-exosome sequencing, which was verified by Sanger sequencing. The results showed that there was a compound heterozygous mutation of c.1052delT and c.76A>T in the TATA-Box Binding Protein Associated Factor 6 (TAF6) gene. The mutation of c.1052delT was from his mother and the mutation of c.76A>T was from his father. CONCLUSION: This study extends the mutation spectrum of the TAF6 gene, and provides a molecular basis for the etiological diagnosis of Alazami-Yuan syndrome and genetic consultation for the family.

Kinetics and molecular mechanism of enhanced fluoranthene biodegradation by co-substrate phenol in co-culture of Stenotrophomonas sp. N5 and Advenella sp. B9.

Polycyclic aromatic hydrocarbons (PAHs) and phenol are persistent pollutants that coexist in coking wastewater (CWW). Fluoranthene (Flu) is the predominant PAH species in the CWW treatment system. Our work emphasized on distinguishing the effects of phenol on Flu biodegradation by co-culture of Stenotrophomonas sp. N5 and Advenella sp. B9 and illustrated the molecular mechanisms. Results showed Flu biodegradation by co-culture was enhanced by phenol. According to the first-order degradation kinetic analysis of Flu, phenol significantly increased the biodegradation rate constant and shortened the half-life of Flu. Transcriptome analysis pointed out the up-regulation of DNA repair activity and 3717 significantly differentially expressed genes (DEGs), were triggered by 800 mg/L phenol. GO enrichment analysis suggested these DEGs are mainly concentrated in biochemical processes such as metal ion binding and alpha-amino acid biosynthesis, which are closely associated with Flu biodegradation, indicating that phenol promotes DNA repair activity and reduces Flu genotoxicity. qRT-PCR was performed to detect the gene expression of aromatic ring-opening dioxygenase. Combined with transcriptome analysis, the qRT-PCR results suggested phenol did not induce the expression of related PAHs-degrading enzymes. RNA extraction and microbial growth curves of COC and COC + Ph provided further evidence that phenol serves as co-substrate which increases biomass and the concentration of degrading enzymes, therefore promoting the Flu degradation.

Research progress of Guizhi Shaoyao Zhimu Decoction in the treatment of rheumatoid arthritis / 国际中医中药杂志

Guizhi Shaoyao Zhimu Decoction combined with drugs taken internally or external therapy show the benefits for rheumatoid arthritis patients. It can control the clinical symptoms such as swelling and pain of the joints, reduce inflammatory indicators, and has less adverse reactions. Modern pharmacological researches show that it can regulate a variety of inflammatory signaling pathways to achieve anti-inflammatory and analgesic effects, induce apoptosis of synovial cells, resist bone damage, and regulate immunity with multiple treatment targets to rheumatoid arthritis.

Clinicopathological features of congenital hemangioma: a study of 40 cases / 中华病理学杂志

Objective: To investigate the clinical and pathologic features, diagnosis and differential diagnosis of congenital hemangioma (CH). Methods: Forty cases of CH were diagnosed from January 2017 to December 2020 in Henan Provincial People's Hospital. The clinical and pathological and immunohistochemical data were analyzed, with review of literature. Results: There were 24 male and 16 female patients. The lesions were located in the head, neck (11 cases), limbs (14 cases), and trunk (15 cases). The clinical manifestations were congenital painless plaques or masses, the larger ones protruded on the skin surface, mostly dusky purple or bright red, with surrounding white halos. Under low magnification, the tumor was lobular and well demarcated, composed of neo-microvascular lumen of different sizes. The vascular endothelial cells were cuboidal or hobnail in appearance, forming stellar drainage vessels within the lobules. Extra-medullary hematopoiesis was seen in one case of rapidly involuting CH; there were different number of tortuous and dilated vascular lumen between the lobular structures, and some non-involuting CH cases were vascular malformations, which were devoid of lobulated structures. Immunohistochemistry showed that endothelial cells were strongly positive for CD31, CD34 and ERG, while D2-40 and GLUT-1 were negative. Conclusions: CH is a benign congenital vascular tumor with characteristic lobulated growth and abnormal blood vessels in the stroma. Pathological diagnosis often needs to be differentiated from infantile hemangioma, pyogenic granuloma, kaposiform hemangioendothelioma and vascular malformation.

Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report.

BACKGROUND: Forkhead box protein 1 (FOXP1) (OMIM: 605515) at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression. Earlier studies have suggested that FOXP1, an oncogene, is capable of initiating tumorigenicity depending on the cell type. FOXP1 also plays an important role in regulating the cell development and functions of the immune system, e.g., regulating B-cell maturation and mononuclear phagocyte differentiation, and in the occurrence and development of various immune diseases. The mRNA of this gene is widely expressed in humans, and its differential expression is related to numerous diseases. CASE SUMMARY: A 5-year-old boy mainly presented with attention deficit and hyperactivity disorder and developmental retardation accompanied by gait instability and abnormal facial features (low-set ears). DNA samples were extracted from the child's and his parents' peripheral blood to detect whole-exome sequences and whole-genome copy number variations. Results revealed heterozygous deletions of exon 6-21 of FOXP1 gene in the child. Physical examination upon admission showed that the child was generally in good condition, had a moderate nutritional status, a slightly slow response to external stimuli, equally large and equally round bilateral pupils, was sensitive to light reflection, and had poor eye contact and joint attention. He had no meaningful utterance and could not pronounce words properly. He was able to use gestures to simply express his thoughts, to perform simple actions, and to listen to instructions. He had no rash, cafe-au-lait macules, or depigmentation spots. He had thick black hair and low-set ears. He had highly sensitive skin, especially on his face and palms. He had no abnormal palm fingerprint. Cardiopulmonary and abdominal examinations revealed no abnormalities. He had normal limb muscle strength and tension. He showed normal tendon reflexes of both knees. His bilateral Babinski and meningeal irritation signs were negative. He had a normal male vulva. CONCLUSION: We report the characteristic features of autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion. This study provides a molecular basis for etiological diagnosis and treatment of the child, as well as for genetic counseling for the pedigree.