title: Mutations in LOXHD1 gene cause various types and severities of hearing loss.
abstract: OBJECTIVE
  We present 2 families that were identified with novel mutations in LOXHD1 as a cause of nonprogressive hearing loss.
  
  
  METHODS
  One thousand three hundred fourteen (1314) Japanese subjects with sensorineural hearing loss from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss.
  
  
  RESULTS
  Two patients in 1 family affected with homozygous mutation c.879+1G>A in LOXHD1 showed profound congenital hearing loss, whereas 2 patients in another family with compound heterozygous mutations, c.5869G>T (p.E1957X) and c.4480C>T (p.R1494X), showed moderate to severe hearing loss.
  
  
  CONCLUSIONS
  Mutations in LOXHD1 are extremely rare, and these cases are the first identified in a Japanese population. The genotype-phenotype correlation in LOXHD1 is still unclear. The differences in phenotypes in each patient might be the result of the nature of the mutations or the location on the gene, or be influenced by a genetic modifier.
authors: Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Kentaro
authors: K
authors: Mori
authors: Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Hideaki
authors: H
authors: Moteki
authors: Department of Otolaryngology, Iwate Medical University School of Medicine, Iwate, Japan.
authors: Yumiko
authors: Y
authors: Kobayashi
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Hela
authors: H
authors: Azaiez
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Kevin T
authors: KT
authors: Booth
authors: Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Shin-Ya
authors: SY
authors: Nishio
authors: Department of Otolaryngology, Iwate Medical University School of Medicine, Iwate, Japan.
authors: Hiroaki
authors: H
authors: Sato
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Richard J H
authors: RJ
authors: Smith
authors: Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.
authors: Shin-Ichi
authors: S
authors: Usami
mesh_terms: D044466:Asian People / Q000235:genetics; D001301:Audiometry, Pure-Tone; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D003638:Deafness / Q000235:genetics; D005808:Genes, Recessive; D056726:Genetic Association Studies; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D010375:Pedigree; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D002352:Carrier Proteins; C543906:LOXHD1 protein, human
keywords: DFNB77; LOXHD1; genetics; hearing loss; massively parallel sequencing