Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S
Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
Clin Genet. 2007 Oct;72(4):339-44. doi: 10.1111/j.1399-0004.2007.00833.x.
Mutations in the CDH23 gene are known to be responsible for both Usher syndrome type ID (USH1D) and non-syndromic hearing loss (DFNB12), and the molecular confirmation of the CDH23 gene has become important in the diagnosis of these conditions. The present study was performed to find whether the CDH23 mutations are also responsible for non-syndromic hearing loss in patients in the Japanese population. A total of 51 sequence variants were found in 64 Japanese probands with non-syndromic sensorineural hearing impairment from autosomal recessive families. Among them, at least four missense mutations in six patients from five families were confirmed to be responsible for deafness by segregation study. All mutations detected were missense mutations, corroborating the previous reports regarding DFNB12. The present data confirmed that CDH23 mutations are frequently found and significantly responsible in Japanese. Interestingly, the CDH23 mutation spectrum in Japanese is very different from that found in Caucasians. This Japanese spectrum may be representative of those in Eastern Asian populations and its elucidation is expected to facilitate the molecular diagnosis of DFNB12 and USH1D.
已知CDH23基因突变是导致1D型Usher综合征（USH1D）和非综合征性听力损失（DFNB12）的原因，对CDH23基因进行分子鉴定在这些疾病的诊断中变得至关重要。本研究旨在确定CDH23基因突变是否也是导致日本人群非综合征性听力损失的原因。在来自常染色体隐性遗传家族的64名患有非综合征性感音神经性听力障碍的日本先证者中，共发现了51个序列变异。其中，通过家系研究证实，来自5个家族的6名患者中至少有4个错义突变与耳聋有关。检测到的所有突变均为错义突变，这与之前关于DFNB12的报道一致。目前的数据证实，CDH23基因突变在日本人中很常见，且具有显著相关性。有趣的是，日本人的CDH23突变谱与高加索人非常不同。这种日本人群的突变谱可能代表了东亚人群的突变谱，对其进行阐明有望促进DFNB12和USH1D的分子诊断。
