Fig 1.
Common ancestral haplotypes of Slovak, Hungarian and Czech Romanies, and Pakistani patients.
The haplotypes in Slovak (SK), Czech (CZ), Hungarian (HU) Roma and Pakistani patients with the c.1331+2T>C mutation, and haplotypes in Slovak Roma controls without the c.1331+2T>C mutation. The c.1331+2T>C mutation is shown in bold. The common haplotype is highlighted in light grey.aThe most similar haplotypes found in 5 out of 56 control individuals. In the remaining 51 control individuals, haplotypes were significantly distinguishable.bThe haplotype in Pakistani patients with c.1183-1G>A mutation.
Fig 2.
Cosegregation of haplotypes in a Slovak Roma family (SK5) with DFNB49 related deafness caused by the c.1331+2T>C mutation.
The filled symbol represents the proband with hearing impairment; symbols with dot represent normal hearing carriers. Alleles forming the risk haplotype are shown in grey boxes.
Fig 3.
Hearing thresholds recorded by PTA in Slovak homozygous subjects.
P1, P2, P3, P5, P6—positive probands and P4—a family member. Dashed line represents the calculated mean audiogram.
Fig 4.
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.