title: A Novel Splicesite Mutation in theEDARGene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family.
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 inEDA, EDAR, EDARADDandNEMOgenes, 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) inEDARgene 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.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Shahram
authors.initials: S
authors.lastname: Torkamandi
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Milad
authors.initials: M
authors.lastname: Gholami
authors.affiliation: Noor Genetics Laboratory, Ahvaz, Iran.; Ahvaz Jundishapour University of Medical Sciences, Ahvaz, Iran.
authors.forename: Javad
authors.initials: J
authors.lastname: Mohammadi-Asl
authors.affiliation: Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Somaye
authors.initials: S
authors.lastname: Rezaie
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Zaimy
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mir Davood
authors.initials: MD
authors.lastname: Omrani
keywords: EDAR; Hypohidrotic ectodermal dysplasia; c.730-2 A&gt;G; splice site mutation