OBJECTIVE:Hypohidrotic ectodermal dysplasia (HED) is a human heritable disorder characterized by sparse hair, a lack of sweat glands and malformation of teeth. There are X-linked, autosomal recessive and autosomal dominant forms of this disorder. Mutations in the EDA gene cause X-linked HED and mutations in either the EDAR or the EDARADD genes cause autosomal forms of HED. To identify pathogenic mutations in one Chinese family with two affected individuals and one diverging patient demonstrating the autosomal form of HED. METHODS:One family and one diverging patient with the clinical diagnosis of hypohidrotic ectodermal dysplasia were investigated in present study. Genomic DNA was extracted from peripheral blood samples obtained from the family members and the individual. To screen for mutations in the EDA and EDAR gene, all of its exons and splice junctions were polymerase chain reaction amplified from genomic DNA and sequenced directly in an ABI Prism 310 automated sequencer. Every mutation was confirmed by sequencing the product of PCR on both DNA strands. Restriction enzyme reaction were performed to identify the mutations. RESULTS:Mutations were not detected in the EDA gene. Sequence analysis of the EDAR gene identified one novel mutations in the family and the diverging patient: a missense mutation (A1570C) and a SNP (T1541C).The mutation had not been previously reported. CONCLUSIONS: Mutation in the EDAR gene are responsible for the phenotypes of HED of the patients in the family and the diverging patient. Our findings extend the body of evidence that supports the importance of the ectodysplasin A1 isoform receptor, a member of the tumour necrosis factor receptor family, in the development of ectodermal appendages.

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