Article
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
Nature genetics - 1 Jul 2017
Yost Shawn, de Wolf Bas, Hanks Sandra, Zachariou Anna, Marcozzi Chiara, Clarke Matthew, de Voer Richarda, Etemad Banafsheh, Uijttewaal Esther, Ramsay Emma, Wylie Harriet, Elliott Anna, Picton Susan, Smith Audrey, Smithson Sarah, Seal Sheila, Ruark Elise, Houge Gunnar, Pines Jonathan, Kops Geert J P L, Rahman Nazneen
Abstract excerpt
Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, which are features of mosaic variegated aneuploidy (MVA) syndrome, were more variably present. Through functional studies, we show that TRIP13-mutant patient cells have no detectable TRIP13...
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