USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms

被引：8

作者：

Moteki, Hideaki ^{[1
,2
,3
]}

Yoshimura, Hidekane ^{[1
]}

Azaiez, Hela ^{[2
]}

Booth, Kevin T. ^{[2
]}

Shearer, A. Eliot ^{[2
]}

Sloan, Christina M. ^{[2
]}

Kolbe, Diana L. ^{[2
]}

Murata, Toshinori ^{[4
]}

Smith, Richard J. H. ^{[2
]}

Usami, Shin-ichi ^{[1
,3
]}

机构：

[1] Shinshu Univ, Sch Med, Dept Otorhinolaryngol, Matsumoto, Nagano 3908621, Japan

[2] Univ Iowa Hosp & Clin, Dept Otolaryngol Head & Neck Surg, Mol Otolaryngol & Renal Res Labs, Iowa City, IA 52242 USA

[3] Shinshu Univ, Sch Med, Dept Hearing Implant Sci, Matsumoto, Nagano 3908621, Japan

[4] Shinshu Univ, Sch Med, Dept Ophthalmol, Matsumoto, Nagano 3908621, Japan

来源：

ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY | 2015年 / 124卷

关键词：

hearing loss; genetics; GPR98; Usher syndrome; massively parallel sequencing; ANKLE-LINK COMPLEX; ENRICHMENT; GENES; MYO7A; VLGR1;

D O I：

10.1177/0003489415574070

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Objective: We present 2 patients who were identified with mutations in the GPR98 gene that causes Usher syndrome type 2 (USH2). Methods: One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were used to identify the genetic causes of hearing loss. Results: We identified causative mutations in the GPR98 gene in 1 family (2 siblings). The patients had moderate sloping hearing loss, and no progression was observed over a period of 10 years. Fundus examinations were normal. However, electroretinograms revealed impaired responses in both patients. Conclusion: Early diagnosis of Usher syndrome has many advantages for patients and their families. This study supports the use of comprehensive genetic diagnosis for Usher syndrome, especially prior to the onset of visual symptoms, to provide the highest chance of diagnostic success in early life stages.

引用

页码：123S / 128S

页数：6

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