A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.
Congenital anonychia is an inherited autosomal recessive disorder characterized by complete absence of fingernails or toenails, or both. In the present study, we have described a consanguineous Pakistani family having a family member affected with congenital anonychia. Genotyping using polymorphic microsatellite markers showed linkage of the family to gene RSPO4 encoding R-spondin and mapped on human chromosome 20p13. Deoxyribonucleic acid sequence analysis of the gene identified a novel nonsense mutation (c.18C>A; p.Cys6X) in the affected family member.
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Naveed
N
Wasif
Wasim
W
Ahmad
D018389:Codon, Nonsense; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D009264:Nails, Malformed / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010154:Pakistan; D010375:Pedigree; D015398:Signal Transduction; D019699:Thrombospondins / Q000235:genetics*; D000098907:R-Spondins
D018389:Codon, Nonsense; D019699:Thrombospondins; C516169:RSPO4 protein, human; D000098907:R-Spondins