DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population
DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population
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DOI：
10.1111/j.1399-0004.2011.01817.x
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发表时间：
2012-12-01
影响因子：
3.5
通讯作者：
Seeman, P.
中科院分区：
文献类型：
--
作者：
Brozkova, D. Safka;Lastuvkova, J.;Seeman, P.
由于内婚，罗姆人患常染色体隐性遗传病（AR）的风险较高。我们对一个捷克罗姆人非综合征性听力损失（NSHL）近亲家庭的单核苷酸多态性芯片进行了纯合子定位。在一个耳聋患者中，第二大纯合子区域被定位到先前报道的DFNB49区域。最近有报道称，MARVELD2基因是NSHL DFNB49的致病基因。对该失聪儿童的MARVELD2基因测序发现了先前报道的纯合突变C .1331+ 2t >C （IVS4 + 2t >C）。随后，在另外19名无亲缘关系的捷克罗姆人耳聋患者中，又在另外两个罗姆人家庭中发现了相同的突变。为了探讨MARVELD2突变和DFNB49对捷克和中欧早期听力损失人群的重要性，我们还测试了40名无关的捷克AR NSHL患者。在一组40名捷克非罗姆患者中未发现MARVELD2基因的致病性突变。MARVELD2基因的突变似乎是捷克罗姆人早期NSHL的一个重要原因，该基因应该在GJB2后的这组患者中进行测试。
Due to endogamy, the Roma have a higher risk for autosomal recessive (AR) disorders. We used homozygosity mapping on single-nucleotide polymorphism chips in one Czech Roma consanguineous family with non-syndromic hearing loss (NSHL). The second largest homozygous region in a deaf patient was mapped to the previously reported DFNB49 region. The MARVELD2 gene was recently reported as a causal gene for NSHL DFNB49. Sequencing of the MARVELD2 gene revealed a previously reported homozygous mutation c.1331+2 T>C (IVS4 + 2 T>C) in the deaf child. Subsequently, the same mutation was found in two more Roma families from an additional 19 unrelated Czech Roma patients with deafness tested for the MARVELD2 gene. To explore the importance of MARVELD2 mutations and DFNB49 for the general Czech and Central European population with early hearing loss we also tested 40 unrelated Czech patients with AR NSHL. No pathogenic mutation in the MARVELD2 gene was found in a group of 40 Czech non-Roma patients. Mutations in the MARVELD2 gene seem to be a significant cause of early NSHL in Czech Roma and this gene should be tested in this group of patients after GJB2.