scholarly journals Genetic etiology study of four Chinese families with two nonsyndromic deaf children in succession by targeted next‐generation sequencing

2021 ◽  
Author(s):  
Caixia Xiao ◽  
Shuang Liu ◽  
Hongyue Wang ◽  
Yibing Ding ◽  
Yaqiu Chen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Deaf Children ◽  
Next Generation ◽  
Genetic Etiology ◽  
Chinese Families ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing

2020 ◽  
Vol 40 (1) ◽  
Author(s):  
Ling-hui Qu ◽  
Xin Jin ◽  
Yan-ling Long ◽  
Jia-yun Ren ◽  
Chuang-huang Weng ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Molecular Mechanisms ◽  
Usher Syndrome ◽  
Next Generation ◽  
Chinese Families ◽  
Targeted Next Generation Sequencing ◽  
Pathogenic Mutations ◽  
Basement Membrane Protein ◽  
Generation Sequencing

Abstract Background: The USH2A gene encodes usherin, a basement membrane protein that is involved in the development and homeostasis of the inner ear and retina. Mutations in USH2A are linked to Usher syndrome type II (USH II) and non-syndromic retinitis pigmentosa (RP). Molecular diagnosis can provide insight into the pathogenesis of these diseases, facilitate clinical diagnosis, and identify individuals who can most benefit from gene or cell replacement therapy. Here, we report 21 pathogenic mutations in the USH2A gene identified in 11 Chinese families by using the targeted next-generation sequencing (NGS) technology. Methods: In all, 11 unrelated Chinese families were enrolled, and NGS was performed to identify mutations in the USH2A gene. Variant analysis, Sanger validation, and segregation tests were utilized to validate the disease-causing mutations in these families. Results: We identified 21 pathogenic mutations, of which 13, including 5 associated with non-syndromic RP and 8 with USH II, have not been previously reported. The novel variants segregated with disease phenotype in the affected families and were absent from the control subjects. In general, visual impairment and retinopathy were consistent between the USH II and non-syndromic RP patients with USH2A mutations. Conclusions: These findings provide a basis for investigating genotype–phenotype relationships in Chinese USH II and RP patients and for clarifying the pathophysiology and molecular mechanisms of the diseases associated with USH2A mutations.

Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Ahmet Anık ◽  
Gönül Çatlı ◽  
Ayhan Abacı ◽  
Erkan Sarı ◽  
Ediz Yeşilkaya ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Maturity Onset Diabetes ◽  
Next Generation ◽  
Genetic Etiology ◽  
Hospital Records ◽  
Turkish Children ◽  
Molecular Analyses ◽  
Targeted Next Generation Sequencing ◽  
Onset Diabetes ◽  
Generation Sequencing

AbstractTo perform molecular analysis of pediatric maturity onset diabetes of the young (MODY) patients by next-generation sequencing, which enables simultaneous analysis of multiple genes in a single test, to determine the genetic etiology of a group of Turkish children clinically diagnosed as MODY, and to assess genotype-phenotype relationship.Forty-two children diagnosed with MODY and their parents were enrolled in the study. Clinical and laboratory characteristics of the patients at the time of diagnosis were obtained from hospital records. Molecular analyses ofA mutation in MODY genes was identified in 12 (29%) of the cases.The results of this study showed that mutations in the

scholarly journals Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Shan Li ◽  
Jianfei Zhang ◽  
Yixuan Cao ◽  
Yi You ◽  
Xiuli Zhao
Keyword(s):  
Next Generation Sequencing ◽  
Congenital Cataract ◽  
Bioinformatics Analysis ◽  
Next Generation ◽  
Novel Mutations ◽  
Congenital Cataracts ◽  
Chinese Families ◽  
Targeted Next Generation Sequencing ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts. Methods Detailed family history and clinical data were collected, and ophthalmological examinations were performed using slit-lamp photography. Genomic DNA was extracted from peripheral blood of all available members. Thirty-eight genes associated with cataract were captured and sequenced in 5 typical nonsyndromic congenital cataract probands by targeted next-generation sequencing (NGS), and the results were confirmed by Sanger sequencing. Bioinformatics analysis was performed to predict the functional effect of mutant genes. Results Results from the DNA sequencing revealed five potential causative mutations: c.154 T > C(p.F52 L) in GJA8 of Family 1, c.1152_1153insG(p.S385Efs*83) in GJA3 of Family 2, c.1804 G > C(p.G602R) in BFSP1 of Family 3, c.1532C > T(p.T511 M) in EPHA2 of Family 4 and c.356G > A(p.R119H) in HSF4 of Family 5. These mutations co-segregated with all affected individuals in the families and were not found in unaffected family members nor in 50 controls. Bioinformatics analysis from several prediction tools supported the possible pathogenicity of these mutations. Conclusions In this study, we identified five novel mutations (c.154 T > C in GJA8, c.1152_1153insG in GJA3, c.1804G > C in BFSP1, c.1532C > T in EPHA2, c.356G > A in HSF4) in five Chinese families with hereditary cataracts, respectively. NGS can be used as an effective tool for molecular diagnosis of genetically heterogeneous disorders such as congenital cataract, and the results can provide more effective clinical diagnosis and genetic counseling for the five families.

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children

2018 ◽  
Vol 39 (6) ◽  
pp. 732-738 ◽  
Author(s):  
An Boudewyns ◽  
Jenneke van den Ende ◽  
Manou Sommen ◽  
Wim Wuyts ◽  
Nils Peeters ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Deaf Children ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Work Up ◽  
Generation Sequencing
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