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Title

A NOVEL SPLICESITE MUTATION IN THE EDAR GENE CAUSES SEVERE AUTOSOMAL RECESSIVE HYPOHYDROTIC (ANHIDROTIC) ECTODERMAL DYSPLASIA IN AN IRANIAN FAMILY

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 Start Page 260 | End Page 263

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, EDARADD and NEMO genes, all of them disrupting NF-B 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) inEDAR 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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