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

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 - PLoS ONE (2015)

Bottom Line: Biallelic mutation carriers suffered from prelingual bilateral moderate to profound sensorineural hearing loss.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.

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Diabetes and Metabolic Disorders & DIABGENE, Institute of Experimental Endocrinology, Slovak Academy of Sciences, 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.

No MeSH data available.


Related in: MedlinePlus

Distribution of the MARVELD2 positive families in Slovakia and Hungary.Black points on the left hand side of the map represent c.1331+2T>C homozygous probands in the Czech Republic, Slovakia and Hungary. The maps of Slovakia and Hungary on right hand side show proportion rate of the Roma ethnicity at the municipality level [33, 34]. This data is not available for the Czech Republic.
© Copyright Policy
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4401708&req=5

pone.0124232.g004: Distribution of the MARVELD2 positive families in Slovakia and Hungary.Black points on the left hand side of the map represent c.1331+2T>C homozygous probands in the Czech Republic, Slovakia and Hungary. The maps of Slovakia and Hungary on right hand side show proportion rate of the Roma ethnicity at the municipality level [33, 34]. This data is not available for the Czech Republic.

Mentions: Until now, MARVELD2 homozygous patients in Europe have only been detected in Czech Republic [10], Slovakia and Northeastern Hungary (Fig 4). Their geographic distribution includes different regions, despite a presumed isolation of certain Roma subpopulations (clans) in these countries. Two Czech families are from the Northwest region (Ústí nad Labem) and one from South Bohemia (České Budějovice). Three Slovak families come from the Eastern (Prešov County) and two from the Western (Nitra and Trenčín County) part of the country. All Hungarian homozygous individuals originate from Northeastern Hungary (Borsod-Abaúj-Zemplén County). But this is actually due to the fact that DNA samples of hearing impaired Hungarian Roma patients were only available from this particular region.


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

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 - PLoS ONE (2015)

Distribution of the MARVELD2 positive families in Slovakia and Hungary.Black points on the left hand side of the map represent c.1331+2T>C homozygous probands in the Czech Republic, Slovakia and Hungary. The maps of Slovakia and Hungary on right hand side show proportion rate of the Roma ethnicity at the municipality level [33, 34]. This data is not available for the Czech Republic.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4401708&req=5

pone.0124232.g004: Distribution of the MARVELD2 positive families in Slovakia and Hungary.Black points on the left hand side of the map represent c.1331+2T>C homozygous probands in the Czech Republic, Slovakia and Hungary. The maps of Slovakia and Hungary on right hand side show proportion rate of the Roma ethnicity at the municipality level [33, 34]. This data is not available for the Czech Republic.
Mentions: Until now, MARVELD2 homozygous patients in Europe have only been detected in Czech Republic [10], Slovakia and Northeastern Hungary (Fig 4). Their geographic distribution includes different regions, despite a presumed isolation of certain Roma subpopulations (clans) in these countries. Two Czech families are from the Northwest region (Ústí nad Labem) and one from South Bohemia (České Budějovice). Three Slovak families come from the Eastern (Prešov County) and two from the Western (Nitra and Trenčín County) part of the country. All Hungarian homozygous individuals originate from Northeastern Hungary (Borsod-Abaúj-Zemplén County). But this is actually due to the fact that DNA samples of hearing impaired Hungarian Roma patients were only available from this particular region.

Bottom Line: Biallelic mutation carriers suffered from prelingual bilateral moderate to profound sensorineural hearing loss.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.

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Diabetes and Metabolic Disorders & DIABGENE, Institute of Experimental Endocrinology, Slovak Academy of Sciences, 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.

No MeSH data available.


Related in: MedlinePlus