Funding sources This work was supported financially by Higher Education Commission, Islamabad, Pakistan.
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia
Article first published online: 5 OCT 2012
© 2012 The Authors. BJD © 2012 British Association of Dermatologists
British Journal of Dermatology
Volume 168, Issue 2, pages 422–425, February 2013
How to Cite
Raza, S.I., Muhammad, N., Khan, S. and Ahmad, W. (2013), A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. British Journal of Dermatology, 168: 422–425. doi: 10.1111/j.1365-2133.2012.11203.x
Conflicts of interest None declared.
- Issue published online: 30 JAN 2013
- Article first published online: 5 OCT 2012
- Accepted manuscript online: 4 AUG 2012 10:04AM EST
- Accepted for publication 31 July 2012
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.