Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
Sá, Maria João Nabais × Fieremans, Nathalie de Brouwer, Arjan P M Sousa, Rita Costa, Fernando Teixeira E Brito, Maria José Carvalho, Fernanda Rodrigues, Márcia de Sousa, Francisco Teixeira Felgueiras, Joana Neves, Fernando Carvalho, Adelino Ramos, Umbelina Vizcaíno, José Ramón Alves, Susana Carvalho, Filipa Froyen, Guy Oliveira, João Paulo #
BMJ Publishing Group
Journal of Medical Genetics vol:50 issue:11 pages:745-53
Alport syndrome (AS), a hereditary type IV collagen nephropathy, is a major cause of end-stage renal disease in young people. About 85% of the cases are X-linked (ATS), due to mutations in the COL4A5 gene. Rarely, families have a contiguous gene deletion comprising at least exon 1 of COL4A5 and the first exons of COL4A6, associated with the development of diffuse leiomyomatosis (ATS-DL). We report three novel deletions identified in families with AS, one of which challenges the current concepts on genotype-phenotype correlations of ATS/ATS-DL.