FZD6 encoding the Wnt receptor frizzled-6 is mutated in autosomal-recessive nail dysplasia

Abstract

Isolated nail dysplasia is rare and has only been reported in a small number of families. In this report, we describe two Pakistani families with an autosomal-recessive inherited nail dysplasia. We mapped this genodermatosis to chromosome 8q22.3, and identified a homozygous nonsense mutation c.1750G>T (p.E584X) in the frizzled 6 (FZD6) gene in all affecteds. Expression analyses in nail sections from healthy individuals revealed strong expression of FZD6 in the ventral nail matrix and a less pronounced expression of FZD6 in the nail bed. FZD6 belongs to a family of proteins ...

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