MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.
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DOI：
10.1371/journal.pone.0124232
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Gašperíková D
中科院分区：
文献类型：
--
作者：
Mašindová I;Šoltýsová A;Varga L;Mátyás P;Ficek A;Hučková M;Sůrová M;Šafka-Brožková D;Anwar S;Bene J;Straka S;Janicsek I;Ahmed ZM;Seeman P;Melegh B;Profant M;Klimeš I;Riazuddin S;Kádasi Ľ;Gašperíková D
在本研究中，我们的目的是：1）建立DFNB 49突变的患病率和临床影响，在聋哑罗姆人从2个中欧国家（斯洛伐克和匈牙利），和2）分析可能的共同起源的c.1331+2T>C突变的罗姆人和巴基斯坦突变携带者在本研究和以前的研究中确定。我们对143名不相关的听力受损斯洛伐克罗姆人患者的MARVELD2基因的6个外显子进行了测序。同时，我们使用RFLP检测了85名匈牙利耳聋罗姆人患者、702名来自两国的正常听力罗姆人和375名听力受损的斯洛伐克白人的c.1331+2T>C突变。我们用21个单核苷酸多态性分析了c.1331+2T>C突变周围的5.34Mb。在12例纯合子听力受损罗姆人中发现了一个致病突变（c.1331+2T>C）。这种突变的等位基因频率在匈牙利（10%）高于斯洛伐克（3.85%）罗姆人患者。确定的共同单倍型在罗姆人患者定义的18个SNP标记（3.89 Mb）。巴基斯坦人和罗姆人的纯合子也有14个共同的SNP。双等位基因突变携带者患有语前双侧中度至重度感音神经性听力损失。我们证明了不同频率的c.1331+2T>C突变听力受损的罗姆人从3个中欧国家。此外，我们的研究结果为斯洛伐克，匈牙利和捷克罗姆人以及巴基斯坦聋人可能有共同祖先的假设提供了支持。C.1331+2T>C突变的检测可推荐用于GJB2阴性的早发性感音神经性听力损失的罗姆人病例。
In the present study we aimed: 1) To establish the prevalence and clinical impact of DFNB49 mutations in deaf Roma from 2 Central European countries (Slovakia and Hungary), and 2) to analyze a possible common origin of the c.1331+2T>C mutation among Roma and Pakistani mutation carriers identified in the present and previous studies. We sequenced 6 exons of the MARVELD2 gene in a group of 143 unrelated hearing impaired Slovak Roma patients. Simultaneously, we used RFLP to detect the c.1331+2T>C mutation in 85 Hungarian deaf Roma patients, control groups of 702 normal hearing Romanies from both countries and 375 hearing impaired Slovak Caucasians. We analyzed the haplotype using 21 SNPs spanning a 5.34Mb around the mutation c.1331+2T>C. One pathogenic mutation (c.1331+2T>C) was identified in 12 homozygous hearing impaired Roma patients. Allele frequency of this mutation was higher in Hungarian (10%) than in Slovak (3.85%) Roma patients. The identified common haplotype in Roma patients was defined by 18 SNP markers (3.89 Mb). Fourteen common SNPs were also shared among Pakistani and Roma homozygotes. Biallelic mutation carriers suffered from prelingual bilateral moderate to profound sensorineural hearing loss. We demonstrate different frequencies of the c.1331+2T>C mutation in hearing impaired Romanies from 3 Central European countries. In addition, our results provide support for the hypothesis of a possible common ancestor of the Slovak, Hungarian and Czech Roma as well as Pakistani deaf patients. Testing for the c.1331+2T>C mutation may be recommended in GJB2 negative Roma cases with early-onset sensorineural hearing loss.
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DOI：
10.1083/jcb.200510043
发表时间：
2005-12-19
期刊：
The Journal of cell biology
影响因子：
--
作者：
Ikenouchi J;Furuse M;Furuse K;Sasaki H;Tsukita S;Tsukita S
通讯作者：
Tsukita S
影响因子：
15.9
作者：
Nayak, Gowri;Lee, Sue I.;Riazuddinl, Saima
通讯作者：
Riazuddinl, Saima
影响因子：
5.1
作者：
Barankova, L.;Siskova, D.;Seeman, P.
通讯作者：
Seeman, P.
影响因子：
9.2
作者：
Mendizabal, Isabel;Lao, Oscar;Kayser, Manfred
通讯作者：
Kayser, Manfred
影响因子：
3.7
作者：
Lassuthova P;Sišková D;Haberlová J;Sakmaryová I;Filouš A;Seeman P
通讯作者：
Seeman P