Article
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
American journal of human genetics - 2 May 2013
Campeau Philippe M, Lenk Guy M, Lu James T, Bae Yangjin, Burrage Lindsay, Turnpenny Peter, Román Corona-Rivera Jorge, Morandi Lucia, Mora Marina, Reutter Heiko, Vulto-van Silfhout Anneke T, Faivre Laurence, Haan Eric, Gibbs Richard A, Meisler Miriam H, Lee Brendan H
Abstract excerpt
Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of FIG4 in affected individuals from three unrelated families. FIG4 encodes a phosphoinositide phosphatase required for regulation...
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