A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family

Document Type : Case Report

Authors
Shahram Torkamandi 1
Milad Gholami 1
Javad Mohammadi-asl 2 , 3
Somaye Rezaie 4
Mohammad Ali Zaimy 5
Mir Davood Omrani 1
1 Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2 Noor Genetics Laboratory, Ahvaz, Iran
3 Ahvaz Jundishapour University of Medical Sciences, Ahvaz, Iran
4 Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
5 Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
10.22088/acadpub.BUMS.5.4.260
Abstract
Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of
ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with
mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade
necessary for initiation, formation and differentiation in the embryo and adult. Here we describe a novel acceptor
splice site mutation c.730-2 A>G(IVS 8-2 A>G) in EDAR gene in homozygous form in all affected members of
a family,and in heterozygous form in carriers. Bioinformatics analysis showed that this mutation can create a
new broken splicing site and lead to aberrant splicing.
Keywords
Hypohidrotic ectodermal dysplasia, splice site mutation, EDAR, c.730-2 A>G