:: دوره 5، شماره 4 - ( 8-1395 ) ::
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A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family
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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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نوع مطالعه: Case Report | موضوع مقاله: Genetics & Disease
دریافت: ۱۳۹۵/۵/۲ | پذیرش: ۱۳۹۵/۶/۲۵ | انتشار: ۱۳۹۵/۸/۱۵



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دوره 5، شماره 4 - ( 8-1395 ) برگشت به فهرست نسخه ها