The prevalence and clinical characteristics of TECTA-associated autosomal dominant hearing loss

Rika Yasukawa, Hideaki Moteki, Shin Ya Nishio, Kotaro Ishikawa, Satoko Abe, Yohei Honkura, Misako Hyogo, Ryota Mihashi, Tetsuo Ikezono, Tomoko Shintani, Noriko Ogasawara, Kyoko Shirai, Hiroshi Yoshihashi, Takashi Ishino, Koshi Otsuki, Tsukasa Ito, Kazuma Sugahara, Shin Ichi Usami

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

TECTA is well known as a causative gene for autosomal dominant mid-frequency hearing loss observed in various populations. In this study, we performed next-generation sequencing analysis of a large Japanese hearing loss cohort, including eight hundred and twelve (812) subjects from unrelated autosomal dominant hearing loss families, to estimate the prevalence and phenotype-genotype correlations in patients with TECTA mutations. The prevalence of TECTA mutations in Japanese autosomal dominant sensorineural hearing loss families was found to be 3.2%. With regard to the type of hearing loss, the patients with mutations in the nidogen-like domain or ZA domain of TECTA showed varied audiograms. However, most of the patients with mutations in the ZP domain showed mid-frequency hearing loss. The rate of hearing deterioration in TECTA-associated hearing loss patients and in the normal hearing Japanese control population were the same and regression lines for each group were parallel. We carried out haplotype analysis for four families which had one recurring missense variant, c.5597C>T (p.Thr1866Met). Our results revealed four different haplotypes, suggesting that this mutation occurred independently in each family. In conclusion, TECTA variants represent the second largest cause of autosomal dominant sensorineural hearing loss in Japan. The hearing loss progression observed in the patients with TECTA mutations might reflect presbycusis. The c.5597C>T mutation occurred in a mutational hot spot and is observed in many ethnic populations.

Original languageEnglish
Article number744
JournalGenes
Volume10
Issue number10
DOIs
Publication statusPublished - 2019 Oct

Keywords

  • Autosomal dominant
  • DFNA8/12
  • Genotype-phenotype correlation
  • Haplotype analysis
  • Hearing progression
  • Non-syndromic hearing loss
  • Prevalence
  • TECTA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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