title: Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.
abstract: BACKGROUND
  Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis.
  
  
  METHODS
  By whole exome sequencing, we identified responsible gene of family 4794 with autosomal recessively nonsyndromic hearing loss (ARNSHL). We also used DNA from 56 Chinese familial patients with ARNSHL (autosomal recessive nonsyndromic hearing loss) and 108 ethnicity-matched negative samples to perform extended variants analysis.
  
  
  RESULTS
  We identified MYO15A c.IVS25+3G>A and c.8375 T>C (p.V2792A) as the disease-causing mutations. Both mutations co-segregated with hearing loss in family 4794, but were absent in the 56 index patients and 108 ethnicity-matched controls.
  
  
  CONCLUSIONS
  Our results demonstrated that the hearing loss of family 4794 was caused by novel compound heterozygous mutations in MYO15A.
authors.forename: Xue
authors.initials: X
authors.lastname: Gao
authors.forename: Qing-yan
authors.initials: QY
authors.lastname: Zhu
authors.forename: Yue-Shuai
authors.initials: YS
authors.lastname: Song
authors.forename: Guo-Jian
authors.initials: GJ
authors.lastname: Wang
authors.forename: Yong-Yi
authors.initials: YY
authors.lastname: Yuan
authors.forename: Feng
authors.initials: F
authors.lastname: Xin
authors.forename: Sha-Sha
authors.initials: SS
authors.lastname: Huang
authors.forename: Dong-Yang
authors.initials: DY
authors.lastname: Kang
authors.forename: Ming-Yu
authors.initials: MY
authors.lastname: Han
authors.forename: Li-ping
authors.initials: LP
authors.lastname: Guan
authors.forename: Jian-guo
authors.initials: JG
authors.lastname: Zhang
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, 28# Fuxing Road, Beijing 100853, P, R, China. daipu301@vip.sina.com.
authors.forename: Pu
authors.initials: P
authors.lastname: Dai
mesh_terms: D000328:Adult; D000818:Animals; D001483:Base Sequence; D002681:China; D004247:DNA / Q000235:genetics; D059472:Exome; D005260:Female; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics* / Q000503:physiopathology; D006320:Hearing Tests; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009218:Myosins / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D017421:Sequence Analysis; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid
chemical_list: C485245:MYO15A protein, human; D004247:DNA; D009218:Myosins