DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
复制标题
DOI：
10.1016/j.ijporl.2012.08.006
复制
发表时间：
2012-11-01
影响因子：
1.5
通讯作者：
Seeman, Pavel
中科院分区：
文献类型：
--
作者：
Brozkova, Dana Safka;Lastuvkova, Jana;Seeman, Pavel
目的：非综合征性听力损失（NSHL）是一种以常染色体隐性遗传为主的遗传异质性疾病。到目前为止，40个基因和相同数量的基因座与尚未未知的基因被描述为常染色体隐性NSHL.Patients和方法：一个近亲捷克家庭与NSHL的孩子进行基因分型使用SNP阵列和纯合区域进行了比较，与以前报道的DFNB基因座。与常染色体隐性NSHL相关的GRXCR1和ESRRB基因位于SNP阵列基因分型检测到的8个纯合区域中的2个。p.R291L在聋儿中为纯合子状态，双亲为杂合子。ESRRB基因的整个编码区的测序在另外39例捷克起源的早期NSHL和只有两个变种，p.V413I和p.P386S，被发现在纯合状态，但被认为是polymorphis.Conclusion：纯合性定位是一个强大的方法，用于识别基因在异质性隐性疾病。这是在捷克共和国首次报道DFNB 35突变，似乎是NSHL的罕见原因。(C)2012爱思唯尔爱尔兰有限公司保留所有权利。
Objectives: Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder with mostly autosomal recessive inheritance. So far 40 genes and the same amount of loci with as yet unknown genes were described with autosomal recessive NSHL.Patients and methods: A consanguineous Czech family with a child with NSHL was genotyped using SNP array and homozygous regions were compared with previously reported DFNB loci.Results: GRXCR1 and ESRRB genes associated with autosomal recessive NSHL were located in two of the eight homozygous regions detected by SNP array genotyping.Mutation p.R291L in a homozygous state was found in the deaf child, the parents were heterozygous. The entire coding region of the ESRRB gene was sequenced in additional 39 patients of Czech origin with early NSHL and only two variants, p.V413I and p.P386S, were found in homozygous state, but are considered to be polymorphisms.Conclusion: Homozygosity mapping is a powerful method for identification of genes in heterogeneous recessive diseases. This is the first report of DFNB35 mutations in the Czech Republic and it seems to be a rare cause of NSHL Additional mutations in ESRRB gene were reported in Pakistan, Tunisia and Turkey. (C) 2012 Elsevier Ireland Ltd. All rights reserved.