Whole Exome Sequencing Identifies ACTG1 as the Mutated Gene in a Chinese Family with Autosomal Dominant Non-Syndromic Hearing Loss
LU Yu
ZHANG Xu
YAN Zhi-Qiang
WANG Yan-Fei
ZHENG Long-Yan
GUO Fei-Fei
CHENG Jing
HAN Dong-Yi
Chen Xiao-Wei
YUAN Hui-Jun
Abstract：Objective To analyze the clinical audiological characters and to identify the causative gene of a Chinese family with nonsyndromic autosomal dominant inherited hearing loss. Methods Clinical audiological characteristics and inheri-tance pattern of this family were evaluated,and pedigree was drawn based on medical history investigation. Whole exome se-quencing was conducted using DNA samples of two affected members of this family. Candidate mutation was confirmed by Sanger sequencing. Results This Chinese family was characterized by late onset progressive nonsydromic sensorineural hear-ing impairment. Whole exome sequencing revealed a heterozygous missense mutation c.364A>G in exon 4 of ACTG1, causing amino acid substitution Ile to Val at a conservative position 122. The p.I122V substitution is consistent with hearing loss in this Chinese family confirmed by Sanger sequencing. The alteration of conservative residue Ile122 was predicted to damage its interaction with actin-binding proteins, which may cause disruption of hair cell organization and function. Conclusion We have identified and confirmed that the I122V mutation in ACTG1 may have caused autosomal dominant non-syndromic hear-ing impairment in a Chinese family.
Keywords：DFNAhearing lossWhole Exome SequencingACTG1
Publication Date：2013-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 340-344 )