A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia

Summary Background  Inherited isolated nail anomaly manifesting with onychauxis and onycholysis is a rare condition, caused by mutations in the gene FZD6 , encoding membrane‐bound Wnt receptor protein. Objectives  To search for sequence variants in the gene FZD6 in three individuals of a consanguineous family exhibiting features of nail dysplasia. Methods  Linkage in the family was searched by genotyping microsatellite markers linked to the gene FZD6 , mapped at chromosome 8q22.3. Exons and splice junction sites of the gene FZD6 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer. Results  DNA sequence analysis revealed a novel homozygous missense mutation (c.1266G>A; p.Gly422Asp) located in the transmembrane domain of the protein FZD6. Conclusions  The missense mutation (p.Gly422Asp), identified here, is only the third mutation detected in the gene FZD6 .