Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing

2017 ◽  
Vol 28 (10) ◽  
pp. 2985-2995 ◽  
Author(s):  
Y. Liu ◽  
Asan ◽  
D. Ma ◽  
F. Lv ◽  
X. Xu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Osteogenesis Imperfecta ◽  
Gene Mutation ◽  
Mutation Spectrum ◽  
Next Generation ◽  
Phenotype Correlation ◽  
Targeted Next Generation Sequencing ◽  
Genotype Phenotype Correlation ◽  
Generation Sequencing

scholarly journals HBB gene mutation spectrum in an Indian cohort of 1530 cases using an in-house targeted next-generation sequencing assay

2020 ◽  
Vol 13 (4) ◽  
pp. 239-248
Author(s):  
Ketki Kelkar ◽  
Vijay Ramanan ◽  
Siddharth Anand ◽  
Purvi Majethia ◽  
Shatakshi Ranade ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Gene Mutation ◽  
Mutation Spectrum ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Clinical and genetic study of twelve Chinese Han families with non-syndromic deafness

2019 ◽  
Author(s):  
Di Wu ◽  
Weiyuan Huang ◽  
Shuo Li ◽  
Jie Zhang ◽  
Xiaohua Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Next Generation Sequencing ◽  
Accurate Diagnosis ◽  
Next Generation ◽  
Phenotype Correlation ◽  
Chinese Han ◽  
Targeted Next Generation Sequencing ◽  
Whole Exome ◽  
Syndromic Hearing Loss ◽  
Generation Sequencing

Abstract BACKGROUND: Non-syndromic hearing loss is clinically and genetically heterogeneous. In this study, we characterized the clinical features of twelve Chinese Han deaf families in which mutations in common deafness genes GJB2 , SLC26A4 and MT-RNR1 were excluded. RESULTS: Targeted next-generation sequencing of 147 known deafness genes was performed in probands of ten families, while whole-exome sequencing was applied in those of the rest two. Pathogenic mutations in a total of 11 rare deafness genes, OTOF , CDH23 , PCDH15 , PDZD7 , ADGRV1 , KARS , OTOG , GRXCR2 , MYO6 , GRHL2 , and POU3F4 , were identified in all 12 probands, with 17 mutations being novel. Intrafamilial co-segregation of the mutations and the deafness phenotype were confirmed by Sanger sequencing. CONCLUSIONS: Our results expanded the mutation spectrum and genotype-phenotype correlation of non-syndromic hearing loss in Chinese Hans and also emphasized the importance of combining both next-generation sequencing and detailed auditory evaluation to achieve a more accurate diagnosis for non-syndromic hearing loss.

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