Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments
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DOI：
10.1038/sj.ejhg.5201138
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发表时间：
2004-05-01
影响因子：
5.2
通讯作者：
Beneyto, M
中科院分区：
文献类型：
--
作者：
Aller, E;Nájera, C;Beneyto, M
USH2A基因（Usher）最常见的突变2299delG可导致典型的Usher （USH）综合征II型和非典型USH综合征，这是两种常染色体隐性遗传病，以中度至重度感音神经性听力损失和视网膜色素变性（RP）为特征。此外，在4.5%的非综合征隐性RP患者中发现了USH2A基因的C759F突变。我们调查了191名西班牙患者中存在2299delG和/或C759F突变，这些患者患有不同综合征和非综合征性视网膜疾病，或患有非综合征性听力障碍。在USHII或非典型USH综合征的临床症状患者中观察到2299delG突变，而C759F突变，无论是否与2299delG突变相关，均在非综合征性RP患者以及与听力障碍变异性相关的RP患者中被发现。表型和基因型数据的比较分析支持RP患者的感音神经性听力损失可能取决于USH2A等位基因变异的性质和相关性的假设。
The most common mutation in the USH2A gene ( Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH syndrome, two autosomal recessive disorders, characterised by moderate to severe sensorineural hearing loss and retinitis pigmentosa ( RP). Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients with nonsyndromic recessive RP. We have investigated the presence of the 2299delG and/or the C759F mutations in 191 unrelated Spanish patients with different syndromic and nonsyndromic retinal diseases, or with nonsyndromic hearing impairment. The 2299delG mutation was observed in patients with clinical signs of USHII or of atypical USH syndrome, whereas the C759F mutation, regardless of being associated with the 2299delG mutation or not, was identified in cases with nonsyndromic RP, as well as in patients with RP associated with a variability of hearing impairment. The comparative analysis of both phenotypic and genotypic data supports the hypothesis that sensorineural hearing loss in patients with RP may depend on the nature and on the association of the USH2A allele variants present.