Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

doi:10.1093/brain/awv153

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Article

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Brain : a journal of neurology - 1 Aug 2015

Jinks Robert N, Puffenberger Erik G, Baple Emma, Harding Brian, Crino Peter, Fogo Agnes B, Wenger Olivia, Xin Baozhong, Koehler Alanna E, McGlincy Madeleine H, Provencher Margaret M, Smith Jeffrey D, Tran Linh, Al Turki Saeed, Chioza Barry A, Cross Harold, Harlalka Gaurav V, Hurles Matthew E, Maroofian Reza, Heaps Adam D, Morton Mary C, Stempak Lisa, Hildebrandt Friedhelm, Sadowski Carolin E, Zaritsky Joshua, Campellone Kenneth, Morton D Holmes, Wang Heng, Crosby Andrew, Strauss Kevin A

Abstract excerpt

We describe a novel nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum among 30 children (ages 1.0 to 28 years) from diverse Amish demes. Children with nephrocerebellar syndrome had progressive microcephaly, visual impairment, stagnant psychomotor development, abnormal extrapyramidal movements and nephrosis. Fourteen died between ages 2.7 and 28 years, typically from renal failure. Post-mortem...

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PMID: 26070982
DOI: 10.1093/brain/awv153
PMCID: PMC4511861

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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.PMID 26070982Read ↗

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