Funding sources G.N. is supported by an indigenous PhD fellowship from the Higher Education Commission, Islamabad, Pakistan. M.S. is supported by an Emmy Noether grant from the German Research Foundation (DFG). R.C.B. is a recipient of a Heisenberg Professorship of the DFG.
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia
Version of Record online: 4 APR 2012
© 2011 The Authors. BJD © 2011 British Association of Dermatologists
British Journal of Dermatology
Volume 166, Issue 5, pages 1088–1094, May 2012
How to Cite
Naz, G., Pasternack, S.M., Perrin, C., Mattheisen, M., Refke, M., Khan, S., Gul, A., Simons, M., Ahmad, W. and Betz, R.C. (2012), FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. British Journal of Dermatology, 166: 1088–1094. doi: 10.1111/j.1365-2133.2011.10800.x
Conflicts of interest None declared.
G.N. and S.M.P. contributed equally to this work.
- Issue online: 23 APR 2012
- Version of Record online: 4 APR 2012
- Accepted manuscript online: 28 DEC 2011 03:24PM EST
- Accepted for publication 18 December 2011
Methods S1. Sample collection and preparation; genotyping for exclusion of candidate genes and loci; genome-wide linkage analysis; mutation screening of candidate genes by Sanger sequencing; cloning of FZD6 and protein analyses; immunohistochemistry.
Figure S1. Hair whorls of individuals affected with nail dysplasia.
Figure S2. Presentation of the identified candidate region.
Figure S3. Haplotype analysis of family A and B using microsatellites covering the region around the FZD6 gene.
Figure S4. Heterologous expression of FZD6 mutant and wild-type proteins.
Table S1. Primers for cloning and sequencing of FZD6 wild-type and mutant constructs.
Table S2. Expression of frizzled proteins in the hair follicle and the nail.
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