Abstract
Hypohidrotic ectodermal dysplasia is a rare congenital disorder that results in abnormalities in the structures of ectodermal origin: hair, teeth, and eccrine sweat glands. DNA sequence analysis of EDAR gene in a Pakistani family, demonstrating autosomal recessive form of hypohidrotic ectodermal dysplasia, identified a novel homozygous mutation affecting splice donor site of exon 5 [IVS5+1G > or = C] of the gene.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / genetics*
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Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / pathology*
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Edar Receptor / genetics*
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Exons / genetics
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Family Health
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Female
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Genes, Recessive
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Haplotypes
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Homozygote
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Humans
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Male
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Pakistan
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Pedigree
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Phenotype
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Point Mutation*
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RNA Splice Sites / genetics*
Substances
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EDAR protein, human
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Edar Receptor
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RNA Splice Sites