a novel splicesite mutation in the edar gene causes severe autosomal recessive hypohydrotic (anhidrotic) ectodermal dysplasia in an iranian family

Authors

shahram torkamandi department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences)

milad gholami department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences)

javad mohammadi asl ahvaz jundishapour university of medical sciences, ahvaz, iran.سازمان های دیگر: . noor genetics laboratory, ahvaz, iran

somaye rezaie department of neurology, imam hossein hospital, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences)

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

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. ...

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Journal title:
international journal of molecular and cellular medicine

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