Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability,dysmorphic features, and behavioral abnormalities

Shukla, Anju and Girisha, KM and Somashekar, Puneeth H (2019) Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability,dysmorphic features, and behavioral abnormalities. American Journal of Medical Genetics Part - A, 179A. pp. 870-874. ISSN 1552-4833

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Abstract

BCORL1, a transcriptional corepressor, is involved in negative gene regulation through associations with several protein complexes including Class II histone deacetylases (HDACs). Acquired somatic mutations in BCORL1 have been implicated in the pathogenesis of several malignancies, but germline mutations of BCORL1 have not been associated with a specific genetic syndrome. We report five individuals from three pedigrees with phenotypes including intellectual disability, behavioral difficulties, and dysmorphic features who were found via whole exome sequencing to have variants in BCORL1. In silico analysis of these variants strongly suggests pathogenicity. We propose that hemizygous pathogenic variants in BCORL1 underlie a newly identified X-linked epigenetic syndrome.

Item Type: Article
Uncontrolled Keywords: Corepressor; epigenetic; intellectual disability; X-linked.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 30 Jul 2019 03:54
Last Modified: 30 Jul 2019 03:54
URI: http://eprints.manipal.edu/id/eprint/154172

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