Boucher-Neuh(a)user syndrome caused by compound heterozygous mutations: a case report and literature review / 中华神经科杂志

Objective To investigate the clinical manifestations, genetic basis and related literatures of Boucher-Neuh(a)user syndrome(BNS), hoping to help physicians recognize this rare disease. Methods A 25-year-old BNS patient was reported.The clinical manifestations and the laboratory data including fundus examination, blood testing, brain MRI and genetic data were summarized.The related literatures were also reviewed.Results The patient presented with tremors, ataxia, secondary sexual characteristics dysplasia,epilepsy, and then got worse progressively.Brain MRI showed severe cerebellar atrophy.Two mutations of PNPLA6 gene were found: one is the heterozygous mutation c.1811C >T (p.A604V),which has not been reported;another is c.2990C>T(p.S997L),which has been reported as a pathogenic mutation related to BNS.Conclusion PNPLA6-related BNS may be considered for adolescent patients with tremor and ataxia,secondary sexual characteristics dysplasia and epilepsy.

Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect mutations of SLC25A13 gene in 20 families affected with citrin deficiency and provide prenatal diagnosis for them.</p><p><b>METHODS</b>The 20 probands and their parents were subjected to high-frequency mutation screening combined with Sanger sequencing. After confirming the genotype of each pedigree, genetic counseling and prenatal diagnosis were performed for their subsequent pregnancies.</p><p><b>RESULTS</b>Biallelic pathogenic mutations of the SLC25A13 gene were identified in all probands. These included three deletions (c.851del4, c.1092_1095delT, and c.495delA), two splice-site mutations (IVS6+5G to A and IVS11+1G to A), two nonsense mutations (c.775C to T (p.Q259X) and c.72T to A (p.Y24X)), one duplication mutation (c.1638_1660dup), one insertion (IVSl6ins3kb), and one missense mutation (c.1775A to C (p.Q592P)). Among 24 fetuses undergoing prenatal diagnosis, 8 had normal genotypes, 11 were mutation carriers, while 5 harbored biallelic mutations. Those with wild type alleles or heterozygous SLC25A13 mutations were delivered. Two fetuses harboring homozygous c.851del4 mutations were also delivered. Three fetuses harboring biallelic mutations were terminated.</p><p><b>CONCLUSION</b>Analysis of SLC25A13 gene mutations in families affected by citrin deficiency can provide evidence for molecular diagnosis and facilitate genetic counseling and prenatal diagnosis for the subsequent pregnancy, which can effectively reduce the risk of birth of further affected children.</p>

Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen for mutations of NTRK1 gene in a Chinese family affected with congenital insensitivity to pain with anhidrosis (CIPA).</p><p><b>METHODS</b>Genomic DNA was extracted from the proband and her family members. All of the 17 exons and intron-exon boundaries of the NTRK1 gene were analyzed by direct Sanger sequencing. For the deletional mutation, the PCR products were subjected to T-A cloning and sequencing to verify the mutation.</p><p><b>RESULTS</b>NTRK1 gene analysis revealed that proband has carried a c.1786C>T (p.Arg596*) nonsense mutation inherited from her mother and a novel deletional mutation c.1928-2028+23del from her father. Her elder brother only carried the deletional mutation.</p><p><b>CONCLUSION</b>The diagnosis of CIPA relied on typical clinical symptoms of no pain, anhidrosis and intellectual disability and detection of the biallelic NTRK1 mutations. The novel deletional mutation has enriched the spectrum of NTRK1 mutations.</p>

Phenotypic and genetic analysis of a family affected with microvillus inclusion disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the clinical features and mutations of MYO5B gene in a family affected with microvillus inclusion disease.</p><p><b>METHODS</b>Clinical data of an infant affected with microvillus inclusion disease was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. PCR amplification and Sanger sequencing were performed to analyze all the exons and their flanking sequences of the MYO5B gene.</p><p><b>RESULTS</b>The patient presented with complicated manifestations including respiratory distress syndrome, dehydration, acidosis, bowel dilatation, liver and kidney dysfunction, and severe and intractable diarrhea. A compound mutation of the MYO5B gene, i.e., IVS37-1G>C/c.2729_2731delC (p.R911Afs916X), was discovered in the patient. The former was a splice-site mutation inherited from the mother, while the latter was a frameshift mutation inherited from the father. Both were not reported previously.</p><p><b>CONCLUSION</b>Based on the clinical and molecular evidence, the patient was diagnosed with microvillus inclusion disease. Above finding has expanded the mutation spectrum of the MYO5B gene, which can provide valuable information for genetic counseling for the family.</p>

The influence of social support and family function in elderly preoperative patients psychological situation / 重庆医学

Objective To understand family function ,social support ,preoperative anxiety and depression status among elder‐ly operative patients ,and to explore their relationship .Methods 295 elderly preoperative patients were investigated by family AP‐GAR index (APGAR) ,social support rating scale (SSRS) ,self‐rating anxiety scale (SAS) and self‐rating depression scale(SDS) , descriptive and inferential analysis .Results Among 295 elderly preoperative patients ,there were 208 people with good family func‐tion ,accounting for 70 .51% ,67 people with moderate disability family function ,accounting for 22 .71% ,and 20 people with severe disability family function ,accounting for 6 .78% ;The total score of social support was 40 .42 ± 9 .03 and the scores of subjective support was 23 .32 ± 5 .42 ,objective support with 9 .45 ± 3 .73 and support availability with 7 .65 ± 1 .86 ;152 people were preoper‐ative anxiety ,accounting for 51 .53% ,98 people were preoperative depression ,accounting for 33 .22% .The rate of anxiety and de‐pression good family function group was lower than a family dysfunction group(P<0 .05) .The incidence of depression high social support group is higher than low group (P<0 .05);Among the scores of social support ,subjective support ,objective support and support availability ,we find that patients with family well‐functioning group was higher than patients with family dysfunction group (P<0 .05) .Multiple logistic regression analysis showed that influence factors of preoperative psychological abnormality had educa‐tion level ,whether the tumor diseases ,the total score of social support and family functioning condition .Conclusion Elderly preop‐erative patients have anxiety and depression to a certain extent .The anxiety and depression of patients were related to the family function and social support .We Should pay attention to the effect of farmily function and social support on mental health of elderly patients with operation ,and effective use .

Clinical features and OCRL mutation analysis in a case of infant Lowe syndrome / 中国病理生理杂志

[ ABSTRACT ] AIM: To characterize the phenotypic and genetic features of a patient with Lowe syndrome. METHODS:The clinical data and the MRI of a ten-month-old patient were analyzed.At the same time, all exons of the OCRL gene of the patient and his parents were amplified and Sanger-sequenced.RESULTS:Clinical analysis revealed that the patient has abnormal vision, nystagmus, congenital cataract, hypotonia, proteinuria, hematuria and psychomotor retar-dation.MRI showed white matter myelination delay, bilateral frontal and temporal dysplasia, and subarachnoid cavity en-largement.The results of PCR and Sanger sequencing detected a de novo mutation, NM_000276.3: c.1280-1281delTT (p.Cys428Hisfs*2), a deletion causing a frame shift.To our knowledge, this mutation in OCRL gene has not been repor-ted previously.CONCLUSION:The clinical manifestations suggested a phenotype of Lowe syndrome, and molecular ge-netic testing confirmed the diagnosis.The novel de novo mutation enriches the OCRL mutation spectrum.

Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD IIIa).</p><p><b>METHODS</b>Clinical data for diagnosis, treatment and follow-up of a sick child with GSD III was collected and analyzed. Genomic DNA was extracted from the peripheral blood samples from the patient and his parents. Polymerase chain reaction and direct DNA sequencing were utilized to analyze all of the exons of the AGL gene.</p><p><b>RESULTS</b>The genotype of the child was found to be c.3710_3711delTA/IVS14+1G>T. The former was a maternally-inherited mutation, which has not been reported previously. The latter was an abnormal splice-site mutation inherited from the father.</p><p><b>CONCLUSION</b>Based on its clinical and molecular evidences, the patient was diagnosed as GSD IIIa in conjunction with retrobular optic neuritis.</p>