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

ABSTRACT: 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).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.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.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.

SUBMITTER: Kurban M

PROVIDER: S-EPMC2992807 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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

Kurban Mazen M Michailidis Eleni E Wajid Muhammad M Shimomura Yutaka Y Christiano Angela M AM

Dermatology (Basel, Switzerland) 20100101 3

<h4>Background</h4>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).<h4>Methods</h4>We analyzed the DNA from members of 3 unrelated Pakistani families with XLRH ...[more]

PMID: 20628232

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