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

Torkamandi, Shahram; Gholami, Milad; Mohammadi asl, Javad; Rezaie, Somaye; Zaimy, mohammad ali; Omrani, Mir Davood

doi:10.22088/acadpub.BUMS.5.4.260

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

‎ 10.22088/acadpub.BUMS.5.4.260

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Torkamandi S, Gholami M, Mohammadi asl J, Rezaie S, Zaimy M A, Omrani M D. A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family. Int J Mol Cell Med 2016; 5 (4) :260-263
URL: http://ijmcmed.org/article-1-569-en.html

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 Omrani⁵

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: (7832 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

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Type of Study: Case Report | Subject: Genetics & Disease
Received: 2016/07/23 | Accepted: 2016/09/15 | Published: 2016/11/5