Genetic screening revealed usher syndrome in a paediatric Chinese patient. (3rd April 2017)

• Record Type: Journal Article
• Authors: Qu, Chunyan; Liang, Fenghe; Long, Qin; Zhao, Min; Shang, Haiqiong; Fan, Lynn; Wang, Li; Yan, Denise; Liu, Xuezhong
• Is Part Of: Hearing, balance and communication. Volume 15:Number 2(2017:Jun.)
• Page Start: 98
• Page End: 106
• Publication Date: 2017-04-03
• Subjects: Usher syndrome -- hearing loss -- MYO7A -- mutation -- retinitis pigmentosa; Audiology -- Periodicals; Hearing disorders -- Periodicals; 612.85
• DOI: 10.1080/21695717.2017.1321217
• Languages: English
• ISSNs: 2169-5717

Abstract

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.