Yunis-Varon syndrome

Definition:

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.

References:

[1]. E Yunis, et al. Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome. Am J Dis Child. 1980 Jul;134(7):649-53. [Content Brief]

[2]. Lina Basel-Vanagaite, et al. Yunis-Varon syndrome: further delineation of the phenotype. Am J Med Genet A. 2008 Feb 15;146A(4):532-7. [Content Brief]

[3]. Philippe M Campeau, et al. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet. 2013 May 2;92(5):781-91. [Content Brief]

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