USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.
复制标题
在视觉症状出现之前通过大规模并行测序诊断出GPR98突变引起的USH2。
DOI：
10.1177/0003489415574070
复制
发表时间：
2015
期刊：
影响因子：
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通讯作者：
Usami,Shin-Ichi
中科院分区：
文献类型：
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作者：
Moteki,Hideaki;Yoshimura,Hidekane;Azaiez,Hela;Booth,KevinT;Shearer,AEliot;Sloan,ChristinaM;Kolbe,DianaL;Murata,Toshinori;Smith,RichardJH;Usami,Shin-Ichi
目的报道2例GPR98基因突变导致Usher综合征2型(USH2)的患者。采用靶向基因组浓缩和大规模平行测序的方法对所有已知的非综合征型耳聋基因进行测序，以确定听力损失的遗传原因。这些患者有中度的倾斜听力损失，在10年的时间里没有观察到进展。眼底检查正常。结论早期诊断Usher综合征对患者及其家属有许多好处。这项研究支持对Usher综合征进行全面的基因诊断，特别是在视觉症状出现之前，以提供在生命早期阶段诊断成功的最高机会。
ObjectiveWe present 2 patients who were identified with mutations in theGPR98gene that causes Usher syndrome type 2 (USH2).MethodsOne 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.ResultsWe identified causative mutations in theGPR98gene 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.ConclusionEarly 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.