Genetic screening revealed usher syndrome in a paediatric Chinese patient

Chunyan Qu, Fenghe Liang, Qin Long, Min Zhao, Haiqiong Shang, Lynn Fan, Li Wang, Denise Yan, Xuezhong Liu

Research output: Contribution to journalArticle

Abstract

Introduction: Usher syndrome (USH) is the most common cause of hereditary deaf-blindness. Three clinical subtypes have been classified. USH type I is the most severe subtype characterized by congenital severe-to-profound hearing loss, retinitis pigmentosa and vestibular dysfunction. Methods: One family was analyzed and the analysis included the combination of a custom capture/next-generation sequencing panel of 180 known deafness gene, Sanger sequencing and bioinformatics approaches. Results: Compound heterozygous mutations in the MYO7A gene: a known missense mutation c.494C > T (p.Thr165Met) and a novel missense mutation c.6113G > A (p.Gly2038Glu) were identified in a proband. This Chinese hearing-impaired child was misdiagnosed as non-syndromic hearing loss which was later changed to the diagnosis of USH type I after comprehensive audiometric, vestibular and ophthalmological examinations at 9 years old. Conclusions: Due to the features of genetic heterogeneity and variation in clinical manifestation, molecular diagnosis and ophthalmological examinations by skilled ophthalmologists with knowledge of USH should be suggested as a routine assessment which may improve the accuracy and reliability of etiological diagnosis for hearing loss.

Original languageEnglish (US)
Pages (from-to)98-106
Number of pages9
JournalHearing, Balance and Communication
Volume15
Issue number2
DOIs
StatePublished - Apr 3 2017

Keywords

  • MYO7A
  • Usher syndrome
  • hearing loss
  • mutation
  • retinitis pigmentosa

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Speech and Hearing

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