Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.

Abstract excerpt

Mutations in three functionally related genes EDA, EDAR and EDARDD have been reported to cause hypohidrotic ectodermal dysplasia (HED), which is characterized by sparse hair, reduced ability to sweat, and hypodontia. In few cases mutations in the EDA gene have been found to result in X-linked recessive isolated hypodontia. In the study, presented here, we have ascertained two large Pakistani families (A and B)...

Topics

• Anodontia
• Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
• Ectodysplasins
• Edar Receptor
• Female
• Genetic Diseases, X-Linked
• Humans
• Lod Score
• Male
• Microsatellite Repeats