Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature
Author:
Funder
Instituto de Salud Carlos III
Red de Investigación Renal
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://link.springer.com/content/pdf/10.1186/s12882-019-1317-y.pdf
Reference16 articles.
1. Galloway WH, Mowat AP. Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. J Med Genet. 1968;5:319–21.
2. Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, et al. Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly. Nat Genet. 2017;49:1529–38.
3. Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, et al. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-mowat syndrome. Am J Hum Genet. 2014;95:637–48.
4. Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, et al. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. J Med Genet. 2015;52:381–90.
5. Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, et al. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. 2015;138:2173–90.
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