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13 p, 275.9 KB X-Linked and Autosomal Recessive Alport Syndrome : Pathogenic Variant Features and Further Genotype-Phenotype Correlations / Savige, Judith (The University of Melbourne, Melbourne, Australia) ; Storey, Helen (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Il Cheong, Hae (Seoul National University Hospital, Seoul, Korea) ; Gyung Kang, Hee (Seoul National University Hospital, Seoul, Korea) ; Park, Eujin (Seoul National University Hospital, Seoul, Korea) ; Hilbert, Pascale (Institute de Pathologie et de Genetique ASBL (Bèlgica)) ; Persikov, Anton (Princeton University, Princeton, New Jersey, United States of America) ; Torres-Fernandez, Carmen (GENETAQ, Centro de Genética Molecular) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Hertz, Jens Michael (Odense University Hospital (Dinamarca)) ; Thomassen, Mads (Odense University Hospital (Dinamarca)) ; Shagam, Lev (Pirogov Russian Medical University, Moscow, Russia) ; Wang, Dongmao (The University of Melbourne, Melbourne, Australia) ; Wang, Yanyan (The University of Melbourne, Melbourne, Australia) ; Flinter, Frances (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Nagel, Mato (Centre for Nephrology and Metabolic Medicine, Weisswasser, Germany) ; Universitat Autònoma de Barcelona
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3 / COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. [...]
2016 - 10.1371/journal.pone.0161802
PloS one, Vol. 11 (september 2016)  

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