A common founder mutation in the EDA-A1 gene in X-linked hypodontia.
BACKGROUND
X-linked recessive hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is a rare genodermatosis characterized clinically by developmental abnormalities affecting the teeth, hair and sweat glands. Mutations in the EDA-A1 gene have been associated with XLHED. Recently, mutations in the EDA-A1 gene have also been implicated in isolated X-linked recessive hypodontia (XLRH; OMIM 313500).


METHODS
We analyzed the DNA from members of 3 unrelated Pakistani families with XLRH for mutations in the EDA-A1 gene through direct sequencing and performed haplotype analysis.


RESULTS
We identified a common missense mutation in both families designated c.1091T→C (p.M364T). Haplotype analysis revealed that this is a founder mutation in the 3 families.


CONCLUSIONS
XLHED is a syndrome with variable clinical presentations that contain a spectrum of findings, including hypodontia. We suggest that XLRH should be grouped under XLHED as both share several phenotypic and genotypic similarities.
Kurban
Mazen
M
Department of Dermatology, Columbia University, New York, N.Y., USA.
Michailidis
Eleni
E
Wajid
Muhammad
M
Shimomura
Yutaka
Y
Christiano
Angela M
AM
D000848:Anodontia / Q000235:genetics*; D004252:DNA Mutational Analysis; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics; D053331:Ectodysplasins / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D020125:Mutation, Missense
C506018:EDA protein, human; D053331:Ectodysplasins