A next-generation sequencing gene panel for molecular diagnosis in a large Chinese family with autosomal dominant hearing loss
Sun Feifei
Hu Songqun
Zhang Jie
Wu Di
Zhang Qicheng
Sheng Juping
Zhang Luping
Abstract：Objective To investigate the clinical features of a large Chinese family with progressive autosomal dominant hearing loss, and to search for candidate mutational genes. Methods Collections of detailed medical history, physical examinations, audiologic testing, and CT scan of the temporal bones were performed, and genomic DNA was extracted from peripheral blood samples of the family members. The inheritance model of the family was evaluated. 137 deafness genes of the proband were captured and sequenced by targeted next-generation sequencing (NGS), and the re-sults were confirmed by Sanger sequencing.Results This family has 28 members in 4 generations, of whom 9 persons are affected. All affected family members exhibit late-onset, progressive non-syndromic sensorineural hearing loss. The ages of onset were between 6 and 18 year-old. Two heterozygous missenses (MYH14 mutation c.359C>T and COL11A2 c.4478G>A) were identified. Variants were further confirmed by Sanger sequencing. Only the MYH14 muta-tion was co-segregated with autosomal dominant hearing loss phenotype. Conclusions The heterozygous MYH14 muta-tion c.359C>T is responsible for the autosomal dominant sensorineural hearing loss in this Chinese family, and this re-port confirms that targeted NGS technique is a feasible and more cost-effective tool to detect causative mutations in he-reditary hearing loss.
Keywords：Autosomal dominant inheritanceHereditary hearing lossPedigreeTargeted exome sequencingGene mutation
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 57-60 )