Article
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
PLoS genetics - 1 Apr 2016
Zhang Jinglan, Lachance Véronik, Schaffner Adam, Li Xianting, Fedick Anastasia, Kaye Lauren E, Liao Jun, Rosenfeld Jill, Yachelevich Naomi, Chu Mary-Lynn, Mitchell Wendy G, Boles Richard G, Moran Ellen, Tokita Mari, Gorman Elizabeth, Bagley Kaytee, Zhang Wei, Xia Fan, Leduc Magalie, Yang Yaping, Eng Christine, Wong Lee-Jun, Schiffmann Raphael, Diaz George A, Kornreich Ruth, Thummel Ryan, Wasserstein Melissa, Yue Zhenyu, Edelmann Lisa
Abstract excerpt
Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS). The causative mutation in ~50% of gLEs is unknown. Using whole exome sequencing (WES), we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G), as the genetic cause of a leukoencephalopathy syndrome in five individuals from three unrelated...
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