BIP! Finder - Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

2021 • Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

Authors: Lee, Chaeyoung; Bengani, Hemant; Grozeva, Detelina; Moyon, Lambert; Bhatia, Shipra; Louros, Susana R.; Hope, Jilly; Jackson, Adam; Prendergast, James G.; Owen, Liusaidh J.; Naville, Magali; Rainger, Jacqueline; Grimes, Graeme; Halachev, Mihail; Murphy, Laura C.; Spasic-Boskovic, Olivera; van Heyningen, Veronica; Kind, Peter; Abbott, Catherine M.; Osterweil, Emily; Raymond, F. Lucy; Roest Crollius, Hugues; FitzPatrick, David R.

Venue: PLOS ONE

Type: Publication

Abstract: Identifying causative variants in cis-regulatory elements (CRE) in neurodevelopmental disorders has proven challenging. We have used in vivo functional analyses to categorize rigorously filtered CRE variants in a clinical cohort that is plausibly enriched for causative CRE mutations: 48 unrelated males with a family history consistent with X-linked intellectual disability (XLID) in whom no detectable cause could be identified in the coding regions of the X chromosome (chrX). Targeted sequencing of all chrX CRE identified six rare variants in fi... (read more)

Impact: 3.786123E-9 2.5264564E-9 3 3 / Attention: 0 54

Topics: Genetics and Neurodevelopmental Disorders Genomics and Chromatin Dynamics Chromosomal and Genetic Variations

DOI: 10.1371/journal.pone.0256181

External links: Crossref OpenAIRE

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