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PLoS One. 2015 Apr 17;10(4):e0124232. doi: 10.1371/journal.pone.0124232. eCollection 2015.

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.

Author information

1
Laboratory of Diabetes and Metabolic Disorders & DIABGENE, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia.
2
Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia.
3
Laboratory of Diabetes and Metabolic Disorders & DIABGENE, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia; Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.
4
Department of Medical Genetics, University of Pécs, Clinical Centre, Pécs, Hungary.
5
Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
6
Laboratory of Diabetes and Metabolic Disorders & DIABGENE, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia; Center for Molecular Medicine, Slovak Academy of Sciences, Bratislava, Slovakia.
7
DNA Laboratory, Department of Paediatric Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic.
8
Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America.
9
Department of Medical Genetics, University of Pécs, Clinical Centre, Pécs, Hungary; Szentagothai Research Centre, University of Pécs, Pécs, Hungary.
10
Department of Otorhinolaryngology-Head and Neck Surgery, Faculty Hospital of J. A. Reiman, Prešov, Slovakia.
11
Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.

Abstract

BACKGROUND:

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.

METHODS:

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.

RESULTS:

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.

CONCLUSIONS:

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.

PMID:
25885414
PMCID:
PMC4401708
DOI:
10.1371/journal.pone.0124232
[Indexed for MEDLINE]
Free PMC Article
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