McKusick-Kaufman syndrome

Definition:

McKusick-Kaufman syndrome (MKKS) is a rare, autosomal recessive syndrome reported mainly in infants and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. It is caused by mutations in the MKKS gene, that encodes centrosome-shuttling protein.

References:

[1]. A M Slavotinek, et al. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet. 2002 Jun;110(6):561-7. [Content Brief]

[2]. Shoshiro Hirayama, et al. MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination. Mol Biol Cell. 2008 Mar;19(3):899-911. [Content Brief]

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