International Journal of Molecular and Cellular Medicine

en A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family Genetics & Disease Genetics & Disease Case Report Case Report 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. Hypohidrotic ectodermal dysplasia, splice site, EDAR 260 263 http://ijmcmed.org/browse.php?a_code=A-10-822-2&slc_lang=en&sid=1 Shahram Torkamandi torkamandi.shahram@yahoo.co.uk 10031947532846008724 10031947532846008724 No Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Milad Gholami mtu.q220@gmail.com 10031947532846008725 10031947532846008725 No Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Javad Mohammadi asl mohammadiasl@gmail.com 10031947532846008726 10031947532846008726 No Ahvaz Jundishapour University of Medical Sciences, Ahvaz, Iran. Somaye Rezaie shahram.torkamandi@gmail.com 10031947532846008727 10031947532846008727 No Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. mohammad ali Zaimy zaimy65@gmail.com 10031947532846008728 10031947532846008728 No Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Mir Davood Omrani davood_omrani@yahoo.co.uk 10031947532846008729 10031947532846008729 Yes Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.