title: Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.
abstract: OBJECTIVE
  We present a patient who was identified with novel mutations in the LRTOMT gene and describe the clinical features of the phenotype including serial audiological findings.
  
  
  METHODS
  One hundred six Japanese patients with mild to moderate sensorineural hearing loss from unrelated and nonconsanguineous 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
  Compound heterozygotes with a novel frame-shift mutation and a missense mutation were identified in the LRTOMT gene. The mutated residues were segregated in both alleles of LRTOMT, present within the LRTOMT2 protein coding region. The patient had moderate sloping hearing loss at high frequencies, which progressed at 1000 Hz and higher frequencies over a period of 6 years.
  
  
  CONCLUSIONS
  Hearing loss caused by mutations in the LRTOMT gene is extremely rare. This is the first case report of a compound heterozygous mutation in a nonconsanguineous family.
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Aya
authors: A
authors: Ichinose
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Hideaki
authors: H
authors: Moteki
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Mitsuru
authors: M
authors: Hattori
authors: Department of Otorhinolaryngology, 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 Otorhinolaryngology, 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: D001301:Audiometry, Pure-Tone; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D016368:Frameshift Mutation; D034381:Hearing Loss / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
chemical_list: C533107:LRTOMT protein, human; D011506:Proteins
keywords: DFNB63; LRTOMT; genetics; hearing loss; massively parallel sequencing