耳-肾综合征中MYO7A和USH2A的新型突变。

Novel mutations in MYO7A and USH2A in Usher syndrome.

作者信息

Maubaret Cécilia, Griffoin Jean-Michel, Arnaud Bernard, Hamel Christian

机构信息

INSERM U. 583, INM-Hôpital Saint Eloi, 80, rue Augustin Fliche, 34 295 Montpellier Cedex 5, France.

出版信息

Ophthalmic Genet. 2005 Mar;26(1):25-9. doi: 10.1080/13816810590918118.

DOI:10.1080/13816810590918118

PMID:15823922

Abstract

PURPOSE

Usher syndrome is an autosomal recessive disease associating retinitis pigmentosa and neurosensory deafness. Three clinical types (USH1, USH2, USH3) and 11 mutated genes or loci have been described. Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively. These genes were screened in a series of patients suffering from Usher syndrome.

METHODS

We performed SSCP screening of MYO7A in 12 unrelated patients suffering from Usher syndrome type 1 (USH1) and USH2A in 28 unrelated patients affected by Usher syndrome type 2 (USH2).

RESULTS/CONCLUSIONS: Six mutations in MYO7A were found in five patients, including two novel mutations c.397C > G (His133Asp) and 1244-2A > G (Glu459Stop), accounting for 42% of our USH1 patients. Twelve mutations in USH2A were found in 11 patients, including four new mutations c.850delGA, c.1841-2A > G, c.3129insT, and c.3920C > G (Ser1307Stop), accounting for 39% of our USH2 patients

摘要

目的

Usher综合征是一种常染色体隐性疾病，伴有视网膜色素变性和神经性耳聋。已描述了三种临床类型（USH1、USH2、USH3）以及11个突变基因或位点。MYO7A和USH2A基因的突变分别导致了约40%的1型Usher综合征和60%的2型Usher综合征。对一系列Usher综合征患者的这些基因进行了筛查。

方法

我们对12例非亲缘关系的1型Usher综合征（USH1）患者进行了MYO7A的单链构象多态性（SSCP）筛查，并对28例非亲缘关系的2型Usher综合征（USH2）患者进行了USH2A的SSCP筛查。

结果/结论：在5例患者中发现了MYO7A基因的6个突变，包括两个新突变c.397C>G（His133Asp）和1244-2A>G（Glu459Stop），占我们USH1患者的42%。在11例患者中发现了USH2A基因的12个突变，包括4个新突变c.850delGA、c.1841-2A>G、c.3129insT和c.3920C>G（Ser1307Stop），占我们USH2患者的39%。