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pubmed-article:12879362pubmed:abstractTextAlport syndrome is a hereditary disease of type IV (basement membrane) collagens that occurs spontaneously in humans and dogs. In the human, X-linked Alport syndrome (XLAS) is caused by mutations in COL4A5, resulting in absence of type IV collagen alpha5 chains from the glomerular basement membrane (GBM) of affected individuals. The consequence of this defect is progressive renal failure, for which the only available treatments are dialysis and transplantation. Recent studies support the prospect of gene transfer therapy for Alport syndrome, but further development of required technologies and demonstration of safety and efficacy must be accomplished in a suitable animal model. We previously identified and have propagated a family of mixed-breed dogs with an inherited nephropathy that exhibits the clinical, immunohistochemical, pathological, and ultrastructural features of human XLAS. To identify the causative mutation, COL4A5 cDNAs from normal and affected dogs were sequenced in their entirety. Sequence analyses revealed a 10-bp deletion in exon 9 of affected dogs. This deletion causes a frame-shift that results in a premature stop codon in exon 10. Characterization of the causative mutation was followed by development of an allele-specific test for identification of dogs in this kindred that are destined to develop XLAS.lld:pubmed
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pubmed-article:12879362pubmed:dateRevised2009-11-19lld:pubmed
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pubmed-article:12879362pubmed:articleTitleGenetic cause of X-linked Alport syndrome in a family of domestic dogs.lld:pubmed
pubmed-article:12879362pubmed:affiliationDepartment of Pathobiology, College of Veterinary Medicine, Texas A&M University, College Station, TX 77843-4467, USA.lld:pubmed
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