A single-center retrospective study on epidemiological and Traditional Chinese Medicine syndrome characteristics of 21010 patients with reflux/heartburn symptoms.

OBJECTIVE: To provide a basis for the clinical identification of true and false reflux, integrated traditional Chinese and Western medicine, and psychosomatic treatment, we conducted a retrospective study of the etiology and epidemiological and Traditional Chinese Medicine (TCM) syndrome characteristics of patients with reflux/heartburn symptoms. METHODS: The 210 10 patients with reflux/heartburn treated at Tianjin Nankai Hospital from January 1, 2016, to December 31, 2019, were divided into four groups according to their pathogenesis. Sex, age, course of disease, incidence rate, gastroscopy, 24-h pH-impedance, esophageal manometry, Hamilton Anxiety Scale (HAMA) / Hamilton Depression Scale (HAMD) score, 8-week proton pump inhibitor (PPI) treatment effect, and TCM syndrome characteristics were statistically analyzed. RESULTS: A total of 21010 patients (8864 men and 12146 women), with reflux/heartburn symptoms were screened, including 6284 (29.9%) patients with reflux esophagitis (RE), 10427 (49.6%) patients with non-erosive reflux esophagitis (NERD), 2430 (11.6%) patients with reflux hypersensitivity (RH), and 1870 (8.9%) patients with functional heartburn (FH). The incidence of the disease was higher in women than in men (0.0001). The ranking of the incidence of anxiety and depression in these four groups was FH>RH>NERD>RE ( 0.0001). There were more women than men in the groups with anxiety and more men than women in the groups with depression ( 0.0001), and there was no significant difference in the distribution of anxiety and depression between men and women ( 0.5689). There were significant differences in TCM syndrome characteristics between NERD, RE, and functional esophageal diseases ( 0.01). The highest proportion of functional esophageal disease TCM symptoms was stagnation and phlegm obstruction syndrome (36.16%), and there was no significant difference between RH and FH. The effective rates of PPI treatment at 8 weeks in patients in the RE, NERD, RH, and FH groups were 89%, 72%, 54%, and 0%, respectively. RE was classified into grades A, B, C, and D according to the Los Angeles grading system. The ranking of the incidence of these four grades was A>B>C>D ( 0.0001). The effective rates of PPI treatment at 8 weeks were 91%, 81%, 69%, and 63% in patients with grade A, B, C, and D RE, respectively ( 0.0001). The highest proportion of TCM syndrome types of NERD and RE was the stagnated heat syndrome in the liver and stomach syndrome, 38.99% and 33.90%, respectively. CONCLUSION: Reflux/heartburn symptoms are relatively common in middle-aged women, and NERD is the most common etiology, followed by RE, RH, and FH. The most common TCM syndrome characteristics in NERD and RE were stagnated heat syndrome in the liver and stomach syndrome, and stagnation and phlegm obstruction syndrome in functional esophageal diseases. Most patients with reflux/heartburn symptoms also experienced anxiety and depression.

Graphene Oxide Nanoparticles Combined with CRISPR/Cas9 System Enable Efficient Inhibition of Pseudorabies Virus.

We describe an application where graphene oxide nanoparticles (GONs) enable combined inhibition of Pseudorabies Virus (PRV) through delivery of a CRISPR/Cas9 system for targeted cleaving of a PRV genome and direct interaction with viral particles. The sheeted GONs could load CRISPR plasmid DNA (pDNA) to form a small sized, near-spheroidal GONs-CRISPR complex, which enables CRISPR pDNA efficient intracellular delivery and transient expression under serum conditions. Cell studies showed that GONs-CRISPR could allow rapid cellular uptake, endolysosomes escape, and nucleus transport within 3 h. Virus studies demonstrated that the pure GONs have antiviral activity and GONs-CRISPR could significantly inhibit PRV replication and result in progeny PRV decreasing by approximately 4000 times in infected host cells. Transmission electron microscopy (TEM) imaging showed that GONs-CRISPR could destroy the PRV structures by directly interacting with viral particles. This GONs-based strategy may extend the advanced application of the CRISPR system for antiviral action.

Therapeutic Effect and Mechanism of Regulating Inflammasome NLRP3 Signaling Pathway of Lycopi Herba Extract on Chronic Prostatitis / 中国实验方剂学杂志

ObjectiveTo investigate the therapeutic effect of Lycopi Herba extract on chronic prostatitis （CNP） and explore the underlying action mechanism via the inflammasome NOD-like receptor protein 3 （NLRP3） pathway. MethodNormal human prostatic stromal cells， namely WPMY-1 were induced by lipopolysaccharide （LPS） of 5 mg·L-1， and the effects of Lycopi Herba extract of 3.125， 6.25， 12.5， 25， 50， and 100 mg·L-1 on interleukin-6 （IL-6） level released by LPS-induced WPMY-1 cells were detected by enzyme-linked immunosorbent assay （ELISA）. The half-maximal inhibitory concentration （IC50） was calculated. The expression of key proteins in the NLRP3 pathway was detected by western blot after Lycopi Herba extract of 50， 75， and 100 mg·L-1 was administered to WPMY-1 cells. The rat model of CNP was established by injecting carrageenan salt solution into the abdominal lobe of the prostate gland. Hematoxylin-eosin （HE） staining was used to observe the histopathological changes in the prostate gland in rats. The prostate organ index of rats was measured. The level of 5α-dihydrotestosterone （5α-DHT） in serum， as well as the levels of IL-6， tumor necrosis factor-α （TNF-α）， transforming growth factor-β1 （TGF-β1）， cyclooxygenase-2 （COX-2）， prostaglandin E2 （PGE2）， and inducible nitric oxide synthase （iNOS） in prostate tissue were detected by ELISA. The key protein expressions of COX-2， TGF-β1， and NLRP3 pathway in prostate tissue were detected by Western blot. Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR） was used to detect the expressions of COX-2， IL-1β， TGF-β1， and TNF-α mRNA in prostate tissue. ResultCompared with the normal group， the level of IL-6 and the protein expression levels of NLRP3， ASC， Caspase-1， and IL-1β of WPMY-1 cells in the model group were increased （P<0.05， P<0.01）. Compared with the model group， Lycopi Herba extract could inhibit the levels of IL-6 （P<0.01） released by LPS-induced WPMY-1 cells， with IC50 of 38.26 mg·L-1. The protein expression levels of NLRP3， ASC， and IL-1β in the low-， medium-， and high-dose groups of Lycopi Herba extract were significantly down-regulated （P<0.05， P<0.01）. The expression levels of Caspase-1 protein in medium- and high-dose groups of Lycopi Herba extract were significantly down-regulated （P<0.05， P<0.01）. Compared with the sham operation group， the prostate organ index of rats in the model group was significantly increased （P<0.01）， a large number of inflammatory cells were infiltrated in the prostate tissue， and the histopathological score was significantly increased （P<0.05）； the levels of 5α-DHT in serum， the levels of TNF-α， PGE2， IL-6， TGF-β1， NOS2/iNOS， and COX-2 in prostate tissue， and expression levels of COX-2， IL-1β， and TGF-β1 were significantly increased （P<0.05， P<0.01）. The mRNA expression levels of COX-2， TGF-β1， NLRP3， Caspase-1， ASC， and IL-1β in prostate tissue were significantly up-regulated （P<0.05， P<0.01）. Compared with model group， the low and high doses of Lycopi Herba extract could alleviate the pathological changes in prostate tissue induced by carrageenan， significantly reduce the level of 5α-DHT in serum， levels of TNF-α， PGE2， TGF-β1， and iNOS in prostate tissue （P<0.05， P<0.01）， and mRNA expression levels of COX-2， IL-1β， and TGF-β1 （P<0.05， P<0.01）. The protein expression levels of COX-2， Caspase-1， ASC， and NLRP3 in prostate tissue were significantly down-regulated （P<0.05， P<0.01）. The prostate organ index of the low-dose group of Lycopi Herba extract was significantly decreased （P<0.01）. The level of COX-2 in prostate tissue of the high-dose group of Lycopi Herba extract was significantly decreased， and the protein expression levels of TGF-β1 and IL-1β were significantly down-regulated （P<0.05）. ConclusionLycopi Herba extract has an obvious therapeutic effect on CNP and may reduce inflammation by inhibiting the activation of the inflammasome NLRP3 signaling pathway.

Recent progress of novel circular RNA regulating chemotherapy resistance in glioma / 中国药房

Glioma is a malignant tumor with extremely high rates of recurrence. Clinically ，with the prolongation of the use of chemotherapy drugs ，the drug resistance of glioma cells to chemotherapy drugs is also increasing ，which eventually leads to poor prognosis and shortens overall survival time of patients. It is well known that the development of drug resistance involves multiple mechanisms，including drug transport metabolism ，apoptosis，DNA damage repair ，autophagy，variation of cancer stem cells and epithelial mesenchymal transition. Abnormal expression of circular RNA （circRNA），a novel RNA molecule with unique stability and tissue specificity ，has been shown by more and more evidence to play a crucial regulatory role in the development of drug resistance in glioma. This paper systematically reviews the mechanism of multiple drug resistance in glioma ，and focuses on the role and molecular mechanism of circRNA regulating temozolomide-resistance in glioma. At the same time ，the potential function of circRNA as a new therapeutic target is prospected ，in order to provide an objective theoretical basis for the development of new therapeutic methods.

Establishment of determination method for five Ginkgo biflavones in Ginkgo biloba leaves tablets / 中国药房

OBJECTIVE To establish a met hod for the determination of amentoflavone ，bilobetin，ginkgetin，isoginkgetin and sciadopitysin in Ginkgo biloba leaves tablets. METHODS After extracted with methanol ，ultra-performance liquid chromatography （UPLC）was adopted to determine G. biloba leaves tablets. The determination was performed on Waters Acquity UPLC HSS T 3 column with acetonitrile- 0.4％ phosphoric acid as mobile phase （gradient elution ）at the flow rate of 0.4 mL/min. The column temperature was set at 35 ℃，and the detection wavelength was 340 nm. The sample size were 1 μL（substance control ）and 10 μL （test sample ）. The relative correction factors （RCFs）of bilobetin ，ginkgetin，isoginkgetin and sciadopitysin were calculated by quantitative analysis of multicomponents by single marker （QAMS）using amentoflavone as control. The chromatographic peak was located with the relative retention time method. Then the contents of the above components were calculated ，and the results were compared with those of external standard method （ESM）（except for amentoflavone ）. RESULTS The linear ranges of amentoflavone，bilobetin，ginkgetin，isoginkgetin and sciadopitysin were 0.10-8.21，0.24-19.34，0.16-12.98，0.22-17.66，0.06-4.86 ng，respectively（all r＞0.999）. The quantitation limits were 0.10，0.24，0.16，0.22，0.06 ng，respectively. RSDs of precision ， repeatability and stability tests （36 h）were all lower than 3.00％. The average recoveries were 99.77％-102.85％，and RSDs were 1.90％-4.40％（n＝6）. The average RCFs of bilobetin ，ginkgetin，isoginkgetin and sciadopitysin were 0.91，0.93，0.96 and 0.95， respectively. The average relative retention times were 1.08，1.18，1.19 and 1.30，respectively. The relative deviation between the calculation result of QAMS and ESM was within ±3.00％. CONCLUSIONS The established method is accurate and stable ，and can be applied to the determination of Ginkgo biflavones in G. biloba leaves tablets and control the quality.

The value of re-sampling for patients who had failed non-invasive prenatal testing due to low cell-free fetal DNA fraction / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of re-sampling for patients who had failed non-invasive prenatal testing (NIPT) due to low cell-free fetal DNA (cffDNA) fraction.@*METHODS@#Clinical data of 20 387 patients undergoing NIPT test was reviewed. The patients were re-sampled when initial blood test did not yield a result due to cffDNA fraction. The results were analyzed, and the outcome of pregnancy was followed up.@*RESULTS@#Among all samples, 17 (0.08%) had failed to yield a result due to low cffDNA fraction, all of which accepted re-sampling. A result was attained in 16 cases, with a success rate of 94.12%. Only one sample had failed the re-test.@*CONCLUSION@#For patients who had failed the initial NIPT due to low cffDNA fraction, re-sampling should be considered with gestational week and ultrasound results taken into consideration.

Research progress on anti-tumor mechanism of Tubeimoside-1 / 国际中医中药杂志

Tubeimoside-1 (TBMS1) is a triterpene saponins active components with large content in Cucurbitaceae plant Fritillaria, which is water-soluble and stable. It has a broad inhibitory effect on lung cancer, colorectal cancer, breast cancer, gastric cancer and other tumors. The mechanism is mainly related to the inhibition of tumor cell growth, induction of tumor cell apoptosis, inhibition of tumor cell invasion and metastasis, induction of cell autophagy, and inhibition of tumor angiogenesis.

Gene mutation analysis of 12 families with congenital cataract / 中华实验眼科杂志

Objective:To analyze the clinical manifestations of congenital cataract in 12 families and gene variants causing the disease.Methods:The method of pedigree investigation was adopted.Clinical data of 27 patients from 12 Chinese Han families with congenital cataract were collected, and genomic DNA was extracted from peripheral blood samples of patients and family members.Candidate variants were screened by next generation sequencing and were verified by Sanger sequencing.Population frequency of the variants were obtained through the Genome Arrgregation Database (gnomAD).Pathogenicity of variants was analyzed through the Human Gene Mutation Database (HGMD), Database of Single Nucleotide Polymorphism (dbSNP) and PubMed, and the mutation effect was interpreted by protein prediction softwares including SIFT, PolyPhen_2 and MutationTaster.The conservation analysis of amino acid sequences of variants was performed by GERP+ + software.Diagnosis was confirmed by clinical ophthalmic phenotype, medical history and mutation analysis.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of the First Affiliated Hospital of Zhengzhou University (No.KS-2018-KY-36).Written informed consent was obtained from all subjects and their guardians.Results:Pathogenic genetic variants were found in all the 12 families, 9 of which had known pathogenic variants including MIP c.97C>T, GJA8 c.593G>A, CRYBA4 c.277T>C, CRYBB2 c.563G>A and c.436G>C, CRYGC c.470G>A, CRYGD c.70C>A, PAX2 c.70dupG as well as OCRL E5-E16dup, and 3 novel potential pathogenic variants including CRYGD c.422delG, ELP4 c.886C>A and CRYBB2 c.434G>C. CRYGD c.422delG could lead to the early termination of translation of protein products, which was pathogenic.The nucleotide and amino acid sites of ELP4 c.886C>A and CRYBB2 c.434G>C were highly conserved among species, and were predicted as harmful.The 12 families were consistent with co-segregation. Conclusions:CRYGD c.422delG, ELP4 c.886C>A and CRYBB2 c.434G>C may be novel pathogenic variants of congenital cataract.

Scrutiny of human lung infection by SARS-CoV-2 and associated human immune responses in humanized mice

There is an urgent need for animal models of COVID-19 to study immunopathogenesis and test therapeutic intervenes. In this study we showed that NSG mice engrafted with human lung (HL) tissue (NSG-L mice) could be infected efficiently by SARS-CoV-2, and that live virus capable of infecting Vero cells was found in the HL grafts and multiple organs from infected NSG-L mice. RNA-seq examination identified a series of differentially expressed genes, which are enriched in viral defense responses, chemotaxis, interferon stimulation, and pulmonary fibrosis between HL grafts from infected and control NSG-L mice. Furthermore, when infecting humanized mice with human immune system (HIS) and autologous HL grafts (HISL mice), the mice had bodyweight loss and hemorrhage and immune cell infiltration in HL grafts, which were not observed in immunodeficient NSG-L mice, indicating the development of anti-viral immune responses in these mice. In support of this possibility, the infected HISL mice showed bodyweight recovery and lack of detectable live virus at the later time. These results demonstrate that NSG-L and HISL mice are susceptible to SARS-CoV-2 infection, offering a useful in vivo model for studying SARS-CoV-2 infection and the associated immune response and immunopathology, and testing anti-SARS-CoV-2 therapies.

Impact of Prior Infection on Protection and Transmission of SARS-CoV-2 in Golden Hamsters

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused over 100 million confirmed human infections, and 2 million more deaths globally since its emergence in the end of 2019. Several studies have shown that prior infection provided protective immunity against SARS-CoV-2 in non-human primate models. However, the effect of prior infection on blocking SARS-CoV-2 transmission is not clear. Here, we evaluated the impact of prior infection on protection and transmission of the SARS-CoV-2 virus in golden hamsters. Our results showed that prior infection provided protective immunity against SARS-CoV-2 re-challenge, but it was not sterizing immunity. The transmission experiment results showed that SARS-CoV-2 was efficiently transmitted from naive hamsters to prior infected hamsters by direct contact and airborne route, but not by indirect contact. Further, the virus was efficiently transmitted from prior infected hamsters to naive hamsters by direct contact, but not by airborne route and indirect contact. Surprisingly, the virus can be transmitted between prior infected hamsters by direct contact during a short period of early infection. Taken together, our study demonstrated that prior infected hamsters with good immunity can still be naturally re-infected, and the virus can be transmitted between prior infected hamsters and the naive through different transmission routes, implying the potential possibility of human re-infection and the risk of virus transmission between prior infected population and the healthy. Our study will help to calculate the herd immunity threshold more accurately, make more reasonable public health decisions, formulate an optimized population vaccination program, as well as aid the implementation of appropriate public health and social measures to control COVID-19.

Research progress in mechanism and protection of high temperature environment influencing the body function / 中华创伤杂志

The thermal environment increases the risk of thermal injury for persons under high temperature environment. A full understanding of the effects and hazards of the thermal environment on the human body is of great significance to improve the awareness of persons under high temperature environment and reduce occupational heat damage during work. The authors mainly review the thermal environment from aspects of the definition, mechanism of its influence on main functional systems of the human body, influencing factors of heat stress and progress of protection, so as to provide references for the identification and protection of heat-induced diseases for workers under high temperature environment.

Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Meckel-Gruber syndrome / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for a Chinese couple whom had conceived two fetuses featuring multiple malformations including polycystic kidney, polydactyly and encephalocele.@*METHODS@#Following elective abortion, the fetus from the second pregnancy was subjected to whole exome sequencing. Suspected pathogenic variants were verified by Sanger sequencing of the fetus and its parents.@*RESULTS@#The fetus was found to harbor compound heterozygous variants of the CEP290 gene, namely c.2743G>T (p.E915X) and c.2587-2A>T, which were respectively inherited from its father and mother. The same variants were not detected among 100 healthy controls nor reported previously. Bioinformatic analysis suggested both variants to be deleterious. The fetus was diagnosed with Meckel-Gruber syndrome. Prenatal diagnosis for the couple during their next pregnancy suggested that the fetus did not carry the above pathogenic variants.@*CONCLUSION@#The compound heterozygous variants of the CEP290 gene probably underlay the pathogenesis of Meckel-Gruber syndrome in the second fetus. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the couple, and also enriched the mutational spectrum of the CEP290 gene.

Phenotype and genetic variant analysis of seven pedigrees affected with blepharophimosis syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical manifestations and gene variants of patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES).@*METHODS@#Clinical data of 7 pedigrees affected with BPES were collected, and genomic DNA was extracted from peripheral blood samples of the probands and their relatives. All exons of the FOXL2 gene were subjected to Sanger sequencing. Those with negative findings were further screened by targeted capture and next generation sequencing (NGS) and microarray analysis. Pathogenicity of candidate variants were predicted by search of PubMed and related databases, and the impact of the variants was interpreted by protein prediction software. Diagnosis was confirmed by clinical phenotype, medical history and mutation analysis.@*RESULTS@#A pathogenic variant was identified in six of the 7 pedigrees, which included four known pathogenic variants and one novel FOXL2 c.299dupA variant. A heterozygous 3q22.3q23 deletion, which encompassed the FOXL2 gene, was identified in another pedigree.As predicted, the c.299dupA frameshift mutation of FOXL2 gene can lead to the premature termination of protein translation, which is pathogenic.@*CONCLUSION@#A novel and 5 known pathogenic variants have been identified in six pedigrees affected with BPES by the combined Sanger sequencing, target capture NGS and microarray analysis. Above findings have enabled genetic counseling and prenatal diagnosis for these pedigrees.

Diagnosis of a patient with adjacent gene deletion syndrome with DMD complete deletion type of Duchenne muscular dystrophy / 中华医学遗传学杂志

OBJECTIVE@#To identify the etiology of a patient with severe symptoms of DMD and to trace its pathogenic gene, so as to provide a basis for genetic counseling and clinical intervention.@*METHODS@#Multiple ligation-dependent probe amplification (MLPA) technique was used to analyze exon deletion/repetitive variant of DMD gene, and further analysis was performed by chromosome G-banding, fluorescence in situ hybridization (FISH) and SNP array analysis.@*RESULTS@#The MLPA results of the proband showed that the exon 1-79 of DMD gene were deleted, the G-banding karyotype of blood sample was 46, XY, and the deletion of the short arm of X chromosome was found by FISH. SNP array results showed that 5.8Mb (29 628 158-35 434 714) deletion occurred in the Xp21.2p21.1 region of X chromosome, and the patient was diagnosed as the contiguous deletion syndrome involving the genes of IL1RAPL, MAGEB1-4, ROB, CXorf2, GM, AP3K7IP, FTHL1, DMD, FAM47A, TMEM47, and FAM47B.@*CONCLUSION@#The exact pathogenic site of this family is the deletion of 5.8 Mb (29 628 158-35 434 714) in the Xp21.2p21.1 region of X chromosome, which can be used for prenatal diagnosis. High resolution SNP array technique plays an important role in detecting potential chromosome abnormalities in patients.

Application of SVF-gel and Coleman fat in facial volume filling / 中华医学美学美容杂志

Objective:To evaluate the efficacy of SVF-gel and Coleman fat in facial volume filling.Methods:This investigation presents a retrospective study of facial fat transplantation in 186 patients (114 cases of SVF-gel transplantation and 72 cases of Coleman fat transplantation) from December 2018 to September 2020 in Shanghai Basilica Clinic. Patient satisfaction was evaluated with the satisfaction questionnaire and secondary operation rates were tallied.Results:Facial augmentation and contour were improved in all patients. The satisfaction rate among the patients in the SVF-gel group was 93.0%, while that among the patients in the Coleman fat transplantation group was only 56.9% (χ 2=8.694, P<0.05). Patients in the SVF-gel group experienced less swelling and there was a lower secondary operation rate in the SVF-gel group than those in the Coleman fat transplantation group (1.75% vs 18.1%) (χ 2=13.467, P<0.001). Conclusions:SVF-gel has obvious advantages over traditional fat transplantation in facial volume filling and rejuvenation.

Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism / 中华医学遗传学杂志

OBJECTIVE@#To determine the spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism (OCA).@*METHODS@#A total of 405 OCA patients were collected. High-throughput sequencing (The panel included TYR, OCA2, TYRP1 and SLC45A2 genes), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to analyze the genetic variants and patterns of each subtype.@*RESULTS@#The overall detection rate of genetic variants was 79.9% (647/810), and the variants included missense variants (57.3%, 371/647), frameshift variants (22.9%, 148/647), nonsense variants (13.9%, 90/647), splicing variants (5.6%, 36/647), and microdeletions (0.3%, 2/647). Thirty-six novel variants were detected. Of the 405 patients, 306 have carried 2 variant alleles (75.6%, 306/405), 35 carried 1 variant alleles (8.6%, 35/405), while no variant was detected in 64 patients. Among the 306 genetically diagnosed OCA patients, OCA1 was the most common form (74.5%, 228/306), compared with OCA2 (15.0%, 46/306), OCA3 (0.7%, 2/306) and OCA4 (9.8%, 30/306), respectively. One patient was found to harbor homozygous c.1262-4_c.1262-3insTAGA variant of the TYRP1 gene. Another patient was found to carry compound heterozygous variants of c.1214C>A (p.T405N) and c.1338delinsCG(p.V447Gfs*19) of the TYRP1 gene.@*CONCLUSION@#High-throughput sequencing in combination with Sanger sequencing and MLPA can effectively detect genetic variants associated with OCA. Above finding has expanded variant spectrum of OCA, which can facilitate genetic and prenatal diagnosis of this disease in China.

Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria.@*METHODS@#Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform. Suspected variant was verified by quantitative PCR. Pathogenicity of the candidate variant was predicted based on clinical presentation and laboratory tests.@*RESULTS@#The infant's phenotypes included brain development retardation and proteinuria. Cranial MRI indicated widening of cerebral fissure, bilateral frontal and temporal subarachnoid cavities, and dysplasia of white matter myelination in posterior angular of ventricle. A novel duplication of exons 5 to 16 of the OCRL gene was found in the patient. His mother has carried the same duplication variant.@*CONCLUSION@#The duplication variant of the OCRL gene probably underlies the oculo-cerebro-renal syndrome in the infant. Due to the heterogeneity of its clinical manifestation, pertinent genetic detection is essential for acurrate diagnosis of patients who have the related phenotypes.