The study of EDA and EDAR mutations in 1 HED persian patient

Introduction: Hypohidrotic ectodermal dysplasia (HED( is most common type of ectodermal dysplasia that is the result of faulty ectodermal development lead to ectodermal derivatives defects including sparse hair ( hypotrichosis), anodontia or hypodontia and hypohidrosis or anhidrosis. X-linked HED is caused by mutations in Ectodysplasin A (EDA) gene that account for 90% of all HED cases. Whereas mutations in other involved genes, EDA-receptor (EDAR), EDAR-associated death domain (EDARADD) result in autosomal dominant (OMIM: 129490) and autosomal recessive (OMIM: 224900) forms. It was recently shown that some other genes, including TRAF6 and WNT10A, could be involved in causing HED. Material & Methods: we studied 1 family members with 1 affected persons. The proband was A 5 years old boy from healthy Persian parents with Third-degree relatives (cousin) that was referred to the Laboratory. We collected about a 5-mL quantity of blood from each family members. Genomic DNA was extracted .exons and flanking intronic Primer sequences of EDA and EDAR, were designed. Standard PCR were used and products were sequenced.The sequencing results were analyzed with Sequence Scanner Software. Result and conclusion: EDA gene was studied at first, due to high mutation rate in this gene. The EDAR gene was investigated in secondary. No mutation was found in EDA and EDAR genes. Probably some other genes (e.g. WNT10A, TRAF6) was involved in this case. Other genes analysis was not performed.

Keywords:

Hypohidrotic ectodermal dysplasia , EDA , EDAR , EDARADD