Dois casos não familiares de síndrome de Galloway-Mowat portadores das mutações homozigóticas de WDR73 e TP53RK

El Younsi M., Kraoua L., Meddeb R., Ferjani M., Trabelsi M., Ouertani I. et al. WDR73-related Galloway Mowat syndrome with collapsing glomerulopathy. Eur J Med Genet. 2019;62:103550.

Mathiowetz A. J., Baple E., Russo A. J., Coulter A. M., Carrano E., Brown J. D. et al. An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway. Mol Biol Cell. 2017;28:2492–2507.

Rosti R. O., Sotak B. N., Bielas S. L., Bhat G., Silhavy J. L., Aslanger A. D. et al. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. J Med Genet. 2017;54:399–403.

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;95:637–648.

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;52:381–390.

Jinks R. N., Puffenberger E. G., Baple E., Harding B., Crino P., Fogo A. B. et al. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. 2015;138:2173–2190.

Latypova X., Matsumoto N., Vinceslas-Muller C., Bezieau S., Isidor B., Miyake N. Novel KCNB1 mutation associated with non-syndromic intellectual disability. J Hum Genet. 2017;62: 569–573.

Lin P. Y., Tseng M. H., Zenker M., Rao J., Hildebrandt F., Lin S. H. et al. Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. Orphanet J. Rare Dis. 2018;13:226.

Braun D. A, Rao J., Mollet G., Schapiro D., Daugeron M. C., Tan W. et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017;49:1529-1538.

Keith J., Fabian V. A., Walsh P., Sinniah R., and Robitaille Y. Neuropathological homology in true Galloway-Mowat syndrome. J Child Neurol. 2011;26:510-517.

Hyun H. S., Kim S. H., Park E., Cho M. H., Kang H. G., Lee H. S. et al. A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. BMC Med Genet. 2018;19:131.

Jinks R. N., Puffenberger E. G., Baple E., Harding B., Crino P., Fogo A. B. et al. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. 2015;138:2173–2190.

Chen Y, Yang Y, Yang Y, Rao J, Bai H. Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3. BMC Nephrol. 2023;24:29.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017;49(10):1529-38.

Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, et al. WDR73 mutations cause infantile Neurodegeneration and variable glomerular kidney disease. Hum Mutat. 2015;36(11):1021-8.

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