Article
Yunis-Varón syndrome caused by biallelic VAC14 mutations.
European journal of human genetics : EJHG - 1 Sept 2017
Lines Matthew A, Ito Yoko, Kernohan Kristin D, Mears Wendy, Hurteau-Miller Julie, Venkateswaran Sunita, Ward Leanne, Khatchadourian Karine, McClintock Jeff, Bhola Priya, Campeau Philippe M, Boycott Kym M, Michaud Jean, van Kuilenburg André Bp, Ferdinandusse Sacha, Dyment David A
Abstract excerpt
Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter...
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