A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family.

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Tooth agenesis is the most common dental anomaly , whose aetiology still remains to be fully elucidated . The aim of this study was to investigate the genetic cause of non-syndromic hypodontia with clinical variability in an Egyptian family .The entire coding regions including exon-intron boundaries of the MSX 1 , PAX 9 and WNT 10 A genes were investigated by direct sequencing in all affected family members .Novel heterozygous mutation inherited in an autosomal dominant manner was identified in the WNT 10 A gene . This 21 -bp deletion combined with 1 -bp insertion , c .-14 _7 delinsC , eliminates the translation initiation codon leading to either no protein production or translation of alternative open reading frames . None of the control subjects (400 chromosomes ) were carriers of this novel WNT 10 A mutation . No pathogenic mutations were found in the MSX 1 and PAX 9 genes .The novel c .-14 _7 delinsC mutation might be the etiological variant of the WNT 10 A gene responsible for the permanent tooth agenesis in the Egyptian family . WNT 10 A is a major candidate gene for non-syndromic hypodontia .