We found a Trp24Stop (W24X) homozygosity in two patients of Gypsy origin, to indicate an overall frequency of 6.1% (Figure 2). Since this nonsense mutation truncates connexin 26 protein, homozygotes have no functional protein in the cells. This mutation was most frequent in India and Pakistan [11], and is a common mutation in Roma/ Gypsy patients in Slovakia [12] and Spain [13] as well. This finding is indicative that this mutation was brought by Romanies to Europe from their Indian homeland, but this assumption should be confirmed by DNA polymorphic haplotype analysis.

Mutations Val37Ile (V37I) and Arg127His (R127H), were found at a frequency of 3.0 and 1.6%, respectively (Table 2, Figure 3). Mutation V37I, generally considered as non syndromic causative (http://www.crg.es/deafness/) was found in a compound heterozygous state with 35delG. In the third Gypsy family only the R127H mutation was found. This mutation was the second most common mutation found in Roma/Gypsies from Slovakia [12]. They assume that R127H could be a polymorphism since patients carrying this mutation also had no other GJB2 mutation on the second chromosome. The delD13S1830 mutation in the GJB6 gene was not found in our group of patients.