A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family
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Shahram Torkamandi1 , Milad Gholami1 , Javad Mohammadi asl2 , Somaye Rezaie3 , Mohammad ali Zaimy4 , Mir Davood Omrani 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 |
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Abstract: (7146 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. |
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Keywords: Hypohidrotic ectodermal dysplasia, splice site, EDAR |
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Full-Text [PDF 108 kb]
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Type of Study: Case Report |
Subject:
Genetics & Disease Received: 2016/07/23 | Accepted: 2016/09/15 | Published: 2016/11/5
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