Yunis-Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. Frameshift and missense mutations of FIG4 in affected individuals from unrelated families have been identified. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P2 levels, and thus endosomal trafficking and autophagy.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02127 Yunis-Varon syndrome
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Roman Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH
Title
Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
