A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. (5th October 2012)

• Record Type: Journal Article
• Authors: Raza, S.I.; Muhammad, N.; Khan, S.; Ahmad, W.
• Is Part Of: British journal of dermatology. Volume 168:Number 2(2013:Feb.)
• Page Start: 422
• Page End: 425
• Publication Date: 2012-10-05
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/j.1365-2133.2012.11203.x
• Languages: English
• ISSNs: 0007-0963

Abstract

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