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.
Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
K E
KE
Lee
J
J
Ko
T J
TJ
Shin
H K
HK
Hyun
S H
SH
Lee
J W
JW
Kim
D000848:Anodontia / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D017124:Conserved Sequence / Q000235:genetics; D053331:Ectodysplasins / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006147:Guanine; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010649:Phenylalanine / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics; D013941:Thymine; D014633:Valine / Q000235:genetics
D003062:Codon; C506018:EDA protein, human; D053331:Ectodysplasins; D010649:Phenylalanine; D006147:Guanine; D001120:Arginine; D007930:Leucine; D014633:Valine; D013941:Thymine
EDA; X-linked; development; hypodontia; signaling; tooth