高通量基因捕获测序技术在12个耳聋家庭中的应用

doi:10.6040/j.issn.1673-3770.0.2017.351

Abstract

Abstract: Objective To investigate the clinical characteristics and genetic etiology of non-syndromic deafness in twelve Chinese families. Methods Detailed medical and audiological examinations, as well as a computed tomography scan of the temporal bone, were performed. Genomic DNA was also extracted from the peripheral blood samples obtained from the family members. Targeted next-generation sequencing(NGS)for deafness-related genes was used to identify the mutation in the probands in the 12 families. The results were confirmed using Sanger sequencing. Results All probands exhibited different degrees of non-syndromic sensorineural hearing loss. GJB2 mutations were identified in seven families. The mutations included c.235delC/c.235delC, c.235delC/c.176del16, c.235delC/c.299delAT, c.235delC/c.511_512insAACG, c.235delC/c.605ins46, c.235delC/c.109G>A, and c.109G>A/c.109G>A. Bi-allelic mutations of SLC26A4 were identified in 2 families. The mutations included c.589G>A/c.1975G>C;c.919-2A>G/c.-2071_307+3801del7666. Co-segregation of mutations and deafness was confirmed within each family using Sanger sequencing. No pathogenic mutations within known deafness genes were identified in families 10, 11, and 12. Conclusion Different combinations of mutations of GJB2 and/or SLC26A4 lead to different hearing impairment phenotypes. This study also confirmed that the targeted NGS technique is an efficient genetic test.

Key words: Hereditary hearing loss, Targeted exome sequencing, Gene mutation, Pedigree, Heterogeneity

CLC Number:

R764

SUN Feifei, HU Songqun, TANG Yan, ZHANG Jie, WU Di, QIU Jinhong, WANG Zhixia, ZHANG Luping. A next-generation sequencing gene panel for molecular diagnosis in twelve Chinese families with non-syndromic sensorineural hearing loss.[J].JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2017, 31(5): 45-49.

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A next-generation sequencing gene panel for molecular diagnosis in twelve Chinese families with non-syndromic sensorineural hearing loss.

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