a novel splicesite mutation in the edar gene causes severe autosomal recessive hypohydrotic (anhidrotic) ectodermal dysplasia in an iranian family
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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. ...
full textA 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. Here w...
full textAutosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene
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Journal title:
international journal of molecular and cellular medicineجلد ۵، شماره ۴، صفحات ۰-۰
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