Title: Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
Authors: 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 #
Issue Date: Nov-2013
Publisher: BMJ Publishing Group
Series Title: Journal of Medical Genetics vol:50 issue:11 pages:745-53
Article number: 10.1136/jmedgenet-2013-101670
Abstract: 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.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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