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Article

Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.

Human mutation - 1 Oct 2016

Spickett Carl, Hysi Pirro, Hammond Chistopher J, Prescott Alan, Fincham Gregory S, Poulson Arabella V, McNinch Annie M, Richards Allan J, Snead Martin P

Abstract excerpt

COL2A1 mutations causing haploinsufficiency of type II collagen cause type 1 Stickler syndrome that has a high risk of retinal detachment and failure of the vitreous to develop normally. Exon 2 of COL2A1 is alternatively spliced, expressed in the eye but not in mature cartilage and encodes a region that binds growth factors TGFβ1 and BMP-2. We investigated how both an apparently de novo variant and a polymorphism...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27406592
DOI: 10.1002/humu.23050

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.PMID 27406592Read ↗

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