The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: A case report

Gi Sung Nam, John Hoon Rim, Jae Young Choi, Heon Yung Gee, Jong Rak Choi, Seung Tae Lee, Jinsei Jung

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Abstract

Background: Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-syndromic hearing loss (NSHL) in either a dominant or recessive inheritance pattern. Among the identified TECTA mutations, H1400Y has been associated with NSHL in two independent studies. However, its exact role in contributing to genetic hearing loss remains elusive. Case presentation: We herein report the whole-exome sequencing of a proband presenting with prelingual, non-progressive, mild-to-moderate hearing loss in a simplex family. By using trio-based whole-exome sequencing, we found two heterozygous mutations of R1890C and H1400Y in the ZP and ZA domains of TECTA, respectively. R1890C, previously reported as a pathogenic autosomal dominant mutation of genetic hearing loss, was found to be inherited in a de novo pattern, causing hearing loss in the proband. By contrast, H1400Y was not segregated in this family, and one family member with normal hearing also carried the H1400Y mutation. Conclusion: According to the hearing loss-specific American College of Medical Genetics and Genomics (ACMG) guidelines, we conclude that H1400Y should be disqualified as a cause of genetic hearing loss. True pathogenic variants causing genetic hearing loss should be more deliberately reported in accordance with ACMG guidelines.

Original languageEnglish
Article number57
JournalBMC Medical Genetics
Volume20
Issue number1
DOIs
Publication statusPublished - 2019 Apr 1

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All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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