High prevalence of Cohen syndrome among Irish travellers

Cohen syndrome is a rare autosomal-recessive disorder that has been well documented in the Finnish and Jewish populations (Kivitie-Kallio, 2001; Chandler, 2003). We report our recent diagnosis of five cases of Cohen syndrome among three families from the Irish Traveller Community in the west of Ireland. We are aware of a sixth case of Cohen syndrome among an Irish traveller child living in the UK (K. Chandler, personal communication). All six have an identical homozygote mutation c.4471G>T (p.Glu1491X) in exon 29 of the COH 1 gene.