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A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia
Author(s) -
Raza S.I.,
Muhammad N.,
Khan S.,
Ahmad W.
Publication year - 2013
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2012.11203.x
Subject(s) - missense mutation , genetics , biology , gene , mutation
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 .