Clinical presentation of DFNA11 (MYO7A).
Clinical presentation of DFNA11 (MYO7A).
复制标题
DFNA11 (MYO7A) 的临床表现。
DOI：
10.1159/000066808
复制
发表时间：
2002
影响因子：
--
通讯作者：
K. Ichimura
中科院分区：
文献类型：
--
作者：
Y. Tamagawa;K. Ishikawa;Kotaro Ishikawa;T. Ishida;K. Kitamura;S. Makino;T. Tsuru;K. Ichimura
最近对遗传性听力障碍的研究表明，在某些情况下，同一基因的不同突变可以导致显性或隐性遗传，以及综合征性或非综合征性听力障碍。肌球蛋白VIIA基因(MYO7A)突变导致Ib型Usher综合征(USH1B)[1]、常染色体隐性遗传性非综合征耳聋(DFNB2)[2，3]和常染色体显性遗传性非综合征耳聋(DFNA11)[4]。虽然大多数MYO7A突变会导致USH1B表型，但也有一些突变会导致DFNB2，还有一种突变会导致DFNA11，已有报道。USH1B表型包括儿童时期开始的伴有视网膜色素变性的严重先天性听力损失，并与严重的前庭功能障碍有关。DFNB2的表型是严重的听力损失，发病年龄可变，并有一些前庭功能障碍。本章介绍了一个日本家庭的DFNA11表型，据我们所知，这是唯一一个由MYO7A突变引起的常染色体显性遗传性非综合征性听力障碍[5，6]。
Recent studies of hereditary hearing impairment have shown some cases where different mutations in the same gene can lead to either dominant or recessive inheritance and either syndromic or nonsyndromic hearing impairment. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type Ib (USH1B)[1], an autosomal recessive nonsyndromic hearing impairment (DFNB2)[2, 3], and an autosomal dominant nonsyndromic hearing impairment (DFNA11)[4]. While most MYO7A mutations cause the USH1B phenotype, some cause DFNB2, and one causing DFNA11 has been reported. The USH1B phenotype includes profound congenital hearing loss with retinitis pigmentosa beginning in childhood and is associated with profound vestibular dysfunction. The DFNB2 phenotype is profound hearing loss with variable age at onset and some vestibular dysfunction. This chapter presents the DFNA11 phenotype in a Japanese family which, to our knowledge, is the only one to show autosomal dominant nonsyndromic hearing impairment caused by a mutation in MYO7A [5, 6].