title: Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss.
abstract: BACKGROUND
  The TECTA gene, which encodes alpha-tectorin, has recently been cloned. alpha-Tectorin is a major component of the noncollagenous matrix of the tectorial membrane. Nonsyndromic hearing impairment caused by TECTA mutations has been reported in Austrian, Belgian, Swedish, French, and Lebanese families. The phenotypes and genotypes were different among these families.
  
  
  METHODS
  Our study family displayed autosomal dominant hearing impairment through 3 generations. We sequenced the coding exons of the TECTA gene in 4 affected individuals, and we report the clinical features in a Japanese family with nonsyndromic hearing impairment and a mutation in the TECTA gene.
  
  
  RESULTS
  The 5-frequency average of 250, 500, 1000, 2000, and 4000 Hz in 4 affected individuals was 42.2 +/- 3.7 (mean +/- SD) dB in the right ear and 42.3 +/- 4.5 dB in the left ear. The mean age at onset of hearing impairment was 5 years. The progression of hearing impairment was not confirmed for a 15-year period, from the age of 6 to 21 years, in 1 affected member. The 4 patients had a G-->A missense mutation at nucleotide 6063 in exon 20. This mutation replaces arginine at residue 2021 with histidine (R2021H).
  
  
  CONCLUSIONS
  All 4 affected members showed symmetrical and stable bilateral mild to moderate hearing impairment in the midfrequencies. The mean threshold level of 2000 Hz was the worst among the 5 frequencies. All the affected members had normal vestibular function. The mutation in the TECTA gene, localized in the zona pellucida domain, was detected in all 4 affected individuals. The localization of the mutation in the different modules of the protein may have caused the different clinical features.
authors.affiliation: Department of Otolaryngology, Hamamatsu University School of Medicine, Hamamatsu City, Japan. iwasaki@hama-med.ac.jp
authors.forename: Satoshi
authors.initials: S
authors.lastname: Iwasaki
authors.forename: Daisuke
authors.initials: D
authors.lastname: Harada
authors.forename: Shin-Ichi
authors.initials: S
authors.lastname: Usami
authors.forename: Mitsuyoshi
authors.initials: M
authors.lastname: Nagura
authors.forename: Tamotsu
authors.initials: T
authors.lastname: Takeshita
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Hoshino
mesh_terms: D000293:Adolescent; D000328:Adult; D001301:Audiometry, Pure-Tone; D002648:Child; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology*; D016326:Extracellular Matrix Proteins / Q000235:genetics* / Q000502:physiology; D005260:Female; D058851:GPI-Linked Proteins; D005799:Genes, Dominant / Q000235:genetics* / Q000502:physiology; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000502:physiology; D020125:Mutation, Missense / Q000235:genetics* / Q000502:physiology; D010375:Pedigree
chemical_list: D016326:Extracellular Matrix Proteins; D058851:GPI-Linked Proteins; D008562:Membrane Glycoproteins; C491350:TECTA protein, human