Document Type : case report

Authors

• Nader Ebadi ¹
• Sepehr Javadi ¹
• TayyebAli Salmani ¹
• Mohammad Miryounesi ²
• Vahid Reza Yassaee ²
• Soudeh Ghafouri-Fard ¹

¹ Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

² Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Abstract

Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death domain (EDARADD) genes.
Findings: In this report, we investigated a consanguineous Iranian family with autosomal recessive form of HED. A homozygous missense mutation was detected in exon 1 of EDAR gene in the proband (c.278C>G) resulting in p.C93S that alters the sequence of the EDAR protein.
Conclusions: We facilitated the effective genetic counseling and prenatal diagnosis in this family through detection of the disease causing mutation.

Keywords

• Ectodermal dysplasia
• EDAR
• Mutation