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Novel isoforms of transcript of the EDA gene confirm X-linked inheritance of anhidrotic ectodermal dysplasia

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Kobielak K., Kobielak A., Trzeciak W.

Journal of Applied Genetics

1999

vol. 40

issue 4

355-364

This review is focused on recent developments of the genetic studies on anhidrotic ectodermal dysplasia (EDA) reported since the publication of our previous review in 1997. In addition to cloning of the mouse homologue of the EDA gene, the Tabby gene, recent discoveries of the novel transcript isoforms by several research groups as well as by our group, were presented and discussed in the context of the mode of inheritance of anhidrotic ectodermal dysplasia. The paradox that despite typical phenotype, no mutations were evidenced in the originally described two-exon isoform of the EDA gene, was explained. It was also pointed out that despite careful analysis of the structure of the entire gene and its regulatory region, no mutations were found in some of the patients, suggesting the existence of autosomal dominant or recessive forms of the disease, which requires further investigations.

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1 Journal of Applied Genetics

1 1999

1 Kobielak A.

1 Kobielak K.

1 Trzeciak W.

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Novel isoforms of transcript of the EDA gene confirm X-linked inheritance of anhidrotic ectodermal dysplasia