Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I
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DOI：
10.1006/exer.2000.0863
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发表时间：
2000-08-01
影响因子：
3.4
通讯作者：
Dryja, TP
中科院分区：
文献类型：
--
作者：
Bharadwaj, AK;Kasztejna, JP;Dryja, TP
Usher综合征I型（USH 1）是一种隐性遗传性疾病，包括视网膜色素变性、先天性重度耳聋和前庭共济失调。它可以由至少六个不同基因座（USH 1A-IF）的突变引起。编码人肌球蛋白VIIA（MYO 7A）的基因是USH 1B基因座。在这项研究中，hh无关的USH 1患者进行了评估缺陷MYO 7A使用单链构象多态性分析和直接基因组测序。29%的病例被发现有可能致病MYO 7A突变。共确定了22种可能的致病性变化，其中18种为新型变化。在5个可用的家庭的突变共分离分析表明，MYO 7A的变化与疾病的常染色体隐性方式分离。通过视敏度、视野面积和ERG振幅测量的平均视功能在可能致病性MYO 7A变化的患者组和未检测到可能致病性MYO 7A变化的患者组之间无显著差异。(C)北京大学出版社.
Usher syndrome type I (USH1) is a recessively-inherited disorder consisting of retinitis pigmentosa, profound congenital deafness, and vestibular ataxia. It can be caused by mutations in at least six different loci (USH1A-IF). The gene encoding human myosin VIIA (MYO7A) is the USH1B locus. In this study, hh unrelated patients with USH1 were evaluated for defects in MYO7A using single-strand conformation polymorphism analysis and direct genomic sequencing. Twenty-nine per cent of cases were found to have likely pathogenic MYO7A, mutations. A total of 22 likely pathogenic changes were identified, 18 of which were novel. Cosegregation analysis of mutations in five available families showed that the MYO7A changes segregated with the disease in an autosomal recessive fashion. Average visual function as measured by Visual acuity, visual field area, and ERG amplitude was not significantly different between the group of patients with likely pathogenic MYO7A changes and the group in which no likely pathogenic MYO7A changes were detected. (C) 2000 Academic Press.