Author/Authors :
Ebadi, Nader Department of Medical Genetics - Shahid Beheshti University of Medical Sciences, Tehran, Iran , Javadi, Sepehr Department of Medical Genetics - Shahid Beheshti University of Medical Sciences, Tehran, Iran , Salmani, TayyebAli Department of Medical Genetics - Shahid Beheshti University of Medical Sciences, Tehran, Iran , Miryounesi, Mohammad Genomic Research Center - Shahid Beheshti University of Medical Sciences, Tehran, Iran , Yassaee, Vahid Reza Genomic Research Center - Shahid Beheshti University of Medical Sciences, Tehran, Iran , Ghafouri-Fard, Soudeh Department of Medical Genetics - 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. Results 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. Conclusion We facilitated the effective genetic counseling and prenatal diagnosis in this family through detection of the disease causing mutation.
