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Article

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.

Clinical genetics - 1 Dec 2012

Šafka Brožková D, Laštůvková J, Štěpánková H, Krůtová M, Trková M, Myška P, Seeman P

Abstract excerpt

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....

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Source

Identifiers

PMID: 22097895
DOI: 10.1111/j.1399-0004.2011.01817.x

Genes

MARVELD2
GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.PMID 22097895Read ↗

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