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Background  Anonychia/hyponychia congenita is a rare autosomal recessive developmental disorder characterized by the absence (anonychia) or hypoplasia (hyponuchia) of finger- and/or toenails frequently caused by mutations in the  R-spondin 4  ( RSPO4 ) gene.    Methods  Three hypo/anonychia consanguineous Pakistani families were ascertained and genotyped using microsatellite markers spanning the  RSPO4  locus on chromosome 20p13 .  Mutation screening of the  RSPO4  gene was carried out by direct sequencing of the entire coding region and all intron-exon boundaries.    Results  Mutations in the  RSPO4  gene were identified in all families including a novel missense mutation c.178C>T (p.R60W) and two recurrent variants c.353G>A (p.C118Y) and c.3G>A (p.M1I). The c.3G>A variant was identified in unaffected family members and a control sample in a homozygous state.    Conclusions  This study raises to 17 the number of known  RSPO4  mutations and further expands the molecular repertoire causing hypo/anonychia. The c.353G>A emerges as a recurrent change with a possible founder effect in the Pakistani population. Our findings suggest that c.3G>A is not sufficient to cause the disorder and could be considered a polymorphism.

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)