Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa

Article Abstract:

Genetic deletions in COL7A1 have been found to be associated with dominant dystrophic epidermolysis bullosa (DDEB) in a study of two familial cases. COL7A1 is the gene associated with type VII collagen. The study indicates that shortened type VII collagen polypeptides affect formation of anchoring fibrils in DDEB. A 28-bp deletion in exon 73 was found in one patient, and a 27-bp deletion in exon 87 was found in the other patient. These exonic sequences may govern splicing of COL7A1 pre-mRNA.

Chromosome deletion, Collagen diseases, Epidermolysis bullosa

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A common and recurrent 13-bp deletion in autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1

Article Abstract:

Autoimmune polyendocrinopathy type 1 (APS1), an autosomal recessive disorder involving hypoparathyroidism, mucocutaneous candidiasis, and adrenocortical failure is discussed, relative to a study of 12 British families with APS1. A common and recurrent 13-bp deletion in the autoimmune regulator gene was found using SSCP analysis and direct DNA sequencing.

United Kingdom, Usage, Abnormalities, Adrenocortical hormones, Skin, Autoimmunity, Candidiasis, Chromosome mapping, Genetic disorders, Hypoparathyroidism, Skin abnormalities

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