Oligodontia and curly hair occur with ectodysplasin-a mutations

Oligodontia is the developmental absence of more than 5 permanent teeth except for the third molar. familial oligodontia can occur as an isolated form or as part of a genetic syndrome. mutations in the msx1,pax9,axin2,eda,and wnt10a genes have been identified in familial non-syndromic oligodontia. ectodermal dysplasia is a group of syndromes involving abnormalities of the ectodermal structures and is comprised of more than 150 different forms. mutations in the ectodysplasin-a (eda) gene have been associated with x-linked hypohidrotic ectodermal dysplasia,and partial disruption of the eda signaling pathway has been shown to cause an isolated form of oligodontia. we identified 2 x-linked oligodontia families and performed mutational analysis of the eda gene. the mutational analysis revealed 2 novel eda mutations: c.866g>t,p.arg289leu and c.1135t>g,p.phe379val (reference sequence nm-001399.4). these mutations were perfectly segregated with oligodontia and curly hair within each family and were not found in the 150 control x-chromosomes with the same ethnic background and in the exome variant server. this study broadens the mutational spectrum of the eda gene and the understanding of x-linked oligodontia with curly hair. © international & american associations for dental research.