目的 To identify the genetic cause of three WS patients in a family. 方法 Six genes were captured and sequenced using next-generation sequencing technology. 结果 A novel heterozygous MITF mutation p.Δ315 Argisolated ...
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目的 To identify the genetic cause of three WS patients in a family. 方法 Six genes were captured and sequenced using next-generation sequencing technology. 结果 A novel heterozygous MITF mutation p.Δ315 Argisolated on exon 8 was found and predicted it as a candidate disease-causing mutation to affect the normal structure and function of the enzyme. 结论 WSis an autosomal dominant disorder with varying degrees of sensorineural hearing *** x genes have been identified to be associated with the different types of WS.
目的 In this study we want to find a genetic relationship between rare mutations of the Wnt-relate d genes and NTDs. 方法 We use exon sequencing to find *** analysis were applied to check whe ther these mutations are ...
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目的 In this study we want to find a genetic relationship between rare mutations of the Wnt-relate d genes and NTDs. 方法 We use exon sequencing to find *** analysis were applied to check whe ther these mutations are functional defect. 结果 Three missense mutations in Lrp6(p. Y505 C, p. N995 G, p. P1427 Q) were identified in NTD cases. 结论 we unveils a genetic relationship between rare mutations of the Wnt-related genes and NTDs.
目的 The aim of this study is to discover unknown or novel chromosome aberrations associated w ith male reproductive failure. 方法 We developed a high-resolution custom array comparative genomic hybridization for init...
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目的 The aim of this study is to discover unknown or novel chromosome aberrations associated w ith male reproductive failure. 方法 We developed a high-resolution custom array comparative genomic hybridization for initial s creening of copy number variations in 10 patients with idiopathic oligozoospermia and azoosper mia. 结果 A novel Y chromosome microdeletion associated with defective spermatogenesis was identif ied. 结论 This newly identified Y chromosome deletion might be associated with impaired spermatoge nesis.
作者：
黄璐琳杨佳良徐思垚冒瑶杨季云曲超The Key Laboratory for Human Disease Gene Study
Sichuan Academy of Medical Science and Sichuan Provincial People's hospital School of Medicine University of Electronic Science and Technology of China Department of Ophthalmology
Sichuan Academy of Medical Science and Sichuan Provincial People's hospital School of Medicine University of Electronic Science and Technology of China Department of Ophthalmology
Beijing Tongren Hospital Capital Medical University
目的 RP is highly heterogeneity. WES represents a significant promotion in identification mutatio ns for Mendelian diseases. 方法 WES analysis to identify novel mutations for 95 sporadic patients with RP. 结果 The ove...
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目的 RP is highly heterogeneity. WES represents a significant promotion in identification mutatio ns for Mendelian diseases. 方法 WES analysis to identify novel mutations for 95 sporadic patients with RP. 结果 The overall presumptive diagnostic rate for our cohort was 40.0%. 48 mutations were identif ied in 22 RP genes, 42 of these mutations were novel. 结论 The high mutations detection rate of WES in our study supports its use in heterogeneous retinal disease practice for molecular diagnosis and genetic counseling.
Objective Congenital Cataract has a high genetic heterogeneity. We screened for the disease-ca using gene mutation in a Han Chinese family with typical nuclear cataract using next generation s equencing. Method Pedigr...
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Objective Congenital Cataract has a high genetic heterogeneity. We screened for the disease-ca using gene mutation in a Han Chinese family with typical nuclear cataract using next generation s equencing. Method Pedigree data were collected and genomic DNA was isolated from peripheral blood of fa mily members. Next generation sequencing was used to screen for gene mutations in the proban d. Sanger sequencing was used to confirm the mutation revealed in this family. PCR-RFLP(restri ction fragment length polymorphism) was used to test the mutation in normal control. Result In this study, we discovered a pathogenic missense mutation in the MAF gene, c.905 C>T(***302 Val). The mutation was also confirmed by Sanger sequencing, which segregated with th e phenotype of cataract. The mutation was not detected in 100 normal control. Conclusion We report a novel MAF mutation, c.905 C>T, identified by next sequencing in a famil y with Congenital Nuclear Cataract. Our findings emphasize the value of the diagnostic approach for the diseases which are high genetic heterogeneity and caused by mutations in different genes.
Objective Todiagnose a child with facial abnormalities by comprehensive use of cytogenetic and molecular techniques and to investigate the clinical phenotype. Method The neuropsychological of the child was analyzed. C...
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Objective Todiagnose a child with facial abnormalities by comprehensive use of cytogenetic and molecular techniques and to investigate the clinical phenotype. Method The neuropsychological of the child was analyzed. Color Doppler, CT and MRI were use d for nodule exploration. Conventional peripheral blood karotypes of the child and his parents wer e analyzed with G-banding analysis. Array-comparative genomic hybridization(a CGH) was perfor med to detect minor chromosomal structural abnormalities. Result The child had mental retardation, maxillofacial dysmorphism of the right and irregular solid nodules on the back. The karyotype of the child and his parents were normal. a CGH has identifie d a do novo constitutive 1.2 Mb deletion at 17 q11.2 of the child. The a CGH results of his parents were *** The microdeletion of 17 q11.2 was the de novo occurrence of the microdeletion and t he cause of facial abnormalities and neurofibromatosis in the patient.
Objective To assess the efficiency of clinical genetic diagnosis of patients with nonsyndromic deafness by using whole-exome sequencing(WES) method. Method WES was performed using the Illumina Hiseq2000 platform in 15...
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Objective To assess the efficiency of clinical genetic diagnosis of patients with nonsyndromic deafness by using whole-exome sequencing(WES) method. Method WES was performed using the Illumina Hiseq2000 platform in 15 patients with nonsyndromic deafness. In this study, we designed a panel contains 80 deafness genes for variants identification. All variants detected by WES were validated by Sanger sequencing. Result The coverage of the region of interested(ROI) over 20 X reads was above 98%;pathogenic or likely pathogenic mutations were identified in different genes, such asGJB2, SLC26 A4, DSPP, TECTA and CHD7. Among these variations, 2 were nonsense mutations, 4 were frame shift mutations, 1 was splice site mutation and the remaining was missense mutation. All variants were validated by Sanger sequencing. Conclusion Whole-exome sequencing method has provided a powerful tool to discover rare variations or novel genes in patients with nonsyndromic deafness.
Objective Duchenne muscular dystrophy(DMD;OMIN#310200) and Becker muscular dystrophy(BMD;OMIN#3003376) are both caused by mutations in the DMD gene(OMIN#300377). Having genetic confirmation of the DMD mutation is impo...
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Objective Duchenne muscular dystrophy(DMD;OMIN#310200) and Becker muscular dystrophy(BMD;OMIN#3003376) are both caused by mutations in the DMD gene(OMIN#300377). Having genetic confirmation of the DMD mutation is important for family planning to procreate. Method In this study, Multiplex ligation-dependent probe amplification(MLPA), next-generation s equencing(NGS) and Sanger sequencing are performed in 95 unrelated DMD/BMD patients. Result We have identified 91 pathogenic mutations and 4 likely pathogenic mutations causing D MD. Large rearrangements are accounting for 72.63%(63.16% deletions and 9.47% duplications) of the patients, and only 27.36% small lesions have been found. Carrier status of mothesr are as certained accounting for 59.56%, de novo mutations cases accounting for 40.44%. Furthermore, 36 pregnant women are performed prenatal diagnosis as a mother had twin pregnancy, 19 fetuse s were diagnosed as normal females and 8 were normal male, follow by 4 fetuses were diagnose d as female carrier and 6 were affected male. Conclusion By experiment, we define an efficient strategy for comprehensive genetic diagnosis and prenatal diagnosis testing for DMD families.
Objective Lipoid proteinosis(LP) is an autosomal recessive genodermatosis characterized predo minately by dermatological manifestations, which occurs all over the world. LP is caused by mutat ions in the extracellular...
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Objective Lipoid proteinosis(LP) is an autosomal recessive genodermatosis characterized predo minately by dermatological manifestations, which occurs all over the world. LP is caused by mutat ions in the extracellular matrix protein 1(ECM1) gene. We reported the clinical manifestation and identified the pathogenisis mutations in a Chinese patient with LP. Method We reported a 28-year-old female with LP. The blood sample was collected from the pati ent and her family members. Genomic DNA was isolated from peripheral blood leucocytes by standard techniques. The laboratory and histopathol ogical investigations were adopted to confirm the diagnosis, and gene sequencing was performed. Result The Laboratory and histopathological investigations showed a lipid metabolism disorder. A compound heterozygous mutation p.C220 G/p.R481 X of ECM1 was identified by Sanger seque ncing. The p.R481 X is a novel mutation and the p.C220 G is a major allele in Chinese patients wit h LP. Conclusion Awareness should be increased for similar clinical phenotypes to avoid the misdiagn osis.
Objective Many CLP patients are caused by single point gene mutations, which control epiderma l development and homeostasis. Phenotypic defect of the CLP syndrome is characteristic by skin defects. Most CLP babies cou...
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Objective Many CLP patients are caused by single point gene mutations, which control epiderma l development and homeostasis. Phenotypic defect of the CLP syndrome is characteristic by skin defects. Most CLP babies could be prenatal diagnosed by the ultrasound on the pregnant women. Induced pluripotent stem cells(i PSCs) derived from somatic cells of patients represent a powerfu l tool for biomedical research and may have a wide range of applications in cell and gene therapy. Method In this study, we generated the i PSC lines from the amniotic fluid derived fibroblasts of h ealthy donors and CLP patients with microdeletion by retroviral vectors encoding Oct4, Sox2 and Klf4. Result CLP-i PSC showed a normal karyotype after long-term culturing in vitro, and harbored the same microdeletion as confirmed by microarray analysis. The cells have maintained their different iation capacity both in vivo and in vitro. Conclusion The CLP-i PSCs harboring the microdeletion have all the characteristics of normal pl uripotent stem cells, and can be used for directed differentiation into specific cells, which may pro vide an ideal cell seed both for repair and transplant to the CLP patients, and also for the researc h of the mechanism of cleft development
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