Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

doi:10.1016/j.ajhg.2014.10.011

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Article

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

American journal of human genetics - 4 Dec 2014

Colin Estelle, Huynh Cong Evelyne, Mollet Géraldine, Guichet Agnès, Gribouval Olivier, Arrondel Christelle, Boyer Olivia, Daniel Laurent, Gubler Marie-Claire, Ekinci Zelal, Tsimaratos Michel, Chabrol Brigitte, Boddaert Nathalie, Verloes Alain, Chevrollier Arnaud, Gueguen Naig, Desquiret-Dumas Valérie, Ferré Marc, Procaccio Vincent, Richard Laurence, Funalot Benoit, Moncla Anne, Bonneau Dominique, Antignac Corinne

Abstract excerpt

Galloway-Mowat syndrome is a rare autosomal-recessive condition characterized by nephrotic syndrome associated with microcephaly and neurological impairment. Through a combination of autozygosity mapping and whole-exome sequencing, we identified WDR73 as a gene in which mutations cause Galloway-Mowat syndrome in two unrelated families. WDR73 encodes a WD40-repeat-containing protein of unknown function. Here, we...

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PMID: 25466283
DOI: 10.1016/j.ajhg.2014.10.011
PMCID: PMC4259970

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