Shukla-Vernon syndrome

Definition:

Shukla-Vernon syndrome (SHUVER) is a new X-linked syndrome charactereized by variable degrees of intellectual disability, seizures, behavioral abnormalities, and dysmorphisms. It has been reported that mutations in BCORL1 are associated with this disease. BCORL1, a transcriptional corepressor, is involved in negative gene regulation through associations with several protein complexes including class II histone deacetylases.

References:

[1]. Anju Shukla, et al. Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. Am J Med Genet A. 2019 May;179(5):870-874. [Content Brief]

[2]. Janneke H M Schuurs-Hoeijmakers, et al. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet. 2013 Dec;50(12):802-11. [Content Brief]

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