A Common Founder Mutation in the EDA-A1 Gene in X-Linked Hypodontia

作者：Kurban Mazen; Michailidis Eleni; Wajid Muhammad; Shimomura Yutaka; Christiano Angela M^*

来源：Dermatology, 2010, 221(3): 243-247.

DOI：10.1159/000314329

• X-linked recessive hypohidrotic ectodermal dysplasia
• X-linked recessive hypodontia
• EDA-A1 gene

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.

• 出版日期2010