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Dermatology. 2010;221(3):243-7. doi: 10.1159/000314329.

A common founder mutation in the EDA-A1 gene in X-linked hypodontia.

Author information

  • 1Department of Dermatology, Columbia University, New York, N.Y., USA.

Abstract

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.

CONCLUSION:

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.

PMID:
20628232
[PubMed - indexed for MEDLINE]
PMCID:
PMC2992807
Free PMC Article

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