Dataset Information

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

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.

SUBMITTER: Masindova I

PROVIDER: S-EPMC4401708 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Publications

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

Mašindová Ivica I Šoltýsová Andrea A Varga Lukáš L Mátyás Petra P Ficek Andrej A Hučková Miloslava M Sůrová Martina M Šafka-Brožková Dana D Anwar Saima S Bene Judit J Straka Slavomír S Janicsek Ingrid I Ahmed Zubair M ZM Seeman Pavel P Melegh Béla B Profant Milan M Klimeš Iwar I Riazuddin Saima S Kádasi Ľudevít Ľ Gašperíková Daniela D

PloS one 20150417 4

<h4>Background</h4>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.<h4>Methods</h4>We sequenced 6 exons of the MARVELD2 gene in a group of 143 unrelated hearing impaired Slovak Roma patients. Simultaneously, we use ...[more]

PMID: 25885414

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Project description:The Roma populations in Central and Eastern Europe are two to three times more likely to have unmet health needs compared to non-Roma residents. The aim of the present study was to investigate the disparity in screening attendance between Hungarian-speaking Roma (R) and non-Roma (nR) women in Hungary (HU-R:322; nR:294), Romania (RO-R:258; nR:183), and Slovakia (SK-R:146; nR:163), while also identifying the factors that influence attendance at any kind of screening tests in both populations. In order to examine these factors, a multiple binary logistic regression was conducted. The findings revealed significant associations between attendance at any kind of screening tests and certain factors among different groups. Among Hungarian Roma women, it was found that having a chronic disease and smoking were linked to attendance at any kind of screening tests (p = 0.009). Specifically, having a chronic disease increased the odds of attendance (OR = 1.71 [1.01, 2.90]), while smoking decreased the odds (OR = 0.57[0.365, 0.91]). In Romania, the study found that not having health insurance decreased the odds of attendance among Roma women (OR = 0.50 [0.27, 0.91]), whereas having a chronic disease increased the odds (OR = 2.87 [1.44, 5.72]) (p = 0.006). Among non-Roma women in Romania, physical inactivity was associated with a decreased likelihood of attendance at any kind of screening tests (OR = 0.48 [0.25, 0.95]). Among Slovakian Roma women, not having health insurance (OR = 0.09[0.02, 0.36]) and smoking (OR = 0.25[0.11, 0.61]) were found to decrease the odds of attendance (p < 0.001). On the other hand, non-Roma women in Slovakia with chronic diseases were more likely to attend at any kind of screening tests (OR = 2.52[1.12, 5.66]). Our research emphasizes the impact of lacking health insurance on screening attendance, particularly among the Roma population. It also highlights the significance of health-related behaviours such as smoking and physical inactivity in relation to missed screening tests, which in turn contribute to the development of non-communicable diseases. Therefore, promoting targeted screening programs for the Roma community is crucial to ensure their access to screening tests, especially in cases of chronic illnesses.

Project description:BACKGROUND:DFNB1, the first locus to have been associated with deafness, has two major genes GJB2 & GJB6, whose mutations have played vital role in hearing impairment across many ethnicities in the world. In our present study we have focused on the role of these mutations in assortative mating hearing impaired families from south India. METHODS:One hundred and six assortatively mating hearing impaired (HI) families of south Indian origin comprising of two subsets: 60 deaf marrying deaf (DXD) families and 46 deaf marrying normal hearing (DXN) families were recruited for this study. In the 60 DXD families, 335 members comprising of 118 HI mates, 63 other HI members and 154 normal hearing members and in the 46 DXN families, 281 members comprising of 46 HI and their 43 normal hearing partners, 50 other HI members and 142 normal hearing family members, participated in the molecular study. One hundred and sixty five (165) healthy normal hearing volunteers were recruited as controls for this study. All the participating members were screened for variants in GJB2 and GJB6 genes and the outcome of gene mutations were compared in the subsequent generation in begetting deaf offspring. RESULTS:The DFNB1 allele frequencies for DXD mates and their offspring were 36.98 and 38.67%, respectively and for the DXN mates and their offspring were 22.84 and 24.38%, respectively. There was a 4.6% increase in the subsequent generation in the DXD families, while a 6.75% increase in the DXN families, which demonstrates the role of assortative mating along with consanguinity in the increase of DFNB1 mutations in consecutive generations. Four novel variants, p.E42D (in GJB2 gene), p.Q57R, p.E101Q, p.R104H (in GJB6 gene) were also identified in this study. CONCLUSION:This is the first study from an Indian subcontinent reporting novel variants in the coding region of GJB6 gene. This is perhaps the first study in the world to test real-time, the hypothesis proposed by Nance et al. in 2000 (intense phenotypic assortative mating mechanism can double the frequency of the commonest forms of recessive deafness [DFNB1]) in assortative mating HI parental generation and their offspring.

Dataset Information

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

Background

Methods

Results

Conclusions

Publications

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

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