:: Volume 5, Issue 4 (Int J Mol Cell Med 2016) ::
Int J Mol Cell Med 2016, 5(4): 260-263 Back to browse issues page
A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family
Shahram Torkamandi1, Milad Gholami1, Javad Mohammadi asl2, Somaye Rezaie3, Mohammad ali Zaimy4, Mir Davood Omrani Prof. 5
1- Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
2- Ahvaz Jundishapour University of Medical Sciences, Ahvaz, Iran.
3- Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
4- Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
5- Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. , davood_omrani@yahoo.co.uk
Abstract:   (3894 Views)

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, EDAR
Full-Text [PDF 108 kb]   (1024 Downloads)    
Type of Study: Case Report | Subject: Genetics & Disease
Received: 2016/07/23 | Accepted: 2016/09/15 | Published: 2016/11/5



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Volume 5, Issue 4 (Int J Mol Cell Med 2016) Back to browse issues page