Pleiotropy of a Stickler syndrome genotype. Issue 6 (November 2022)

• Record Type: Journal Article
• Authors: Baiyasi, Ahmad; Barbosa, Joshua; Parendo, Anthony; Lin, Xihui
• Is Part Of: European journal of ophthalmology. Volume 32:Issue 6(2022)
• Page Start: NP10
• Page End: NP12
• Publication Date: 2022-11
• Subjects: Rod-cone dystrophies (retinitis pigmentosa) -- retinal degenerations associated with systemic disease -- macular and RPE dystrophies -- retinitis pigmentosa -- genetics; Ophthalmology -- Periodicals; Eye -- Diseases -- Periodicals; 617.7005
• DOI: 10.1177/11206721211035611
• Languages: English
• ISSNs: 1120-6721

Abstract

Purpose: To report a case of pleiotropy in the COL2A1 gene typically associated with Stickler Syndrome Type 1. Observations: A patient with a confirmed mutation of the COL2A1 gene presented with an isolated retinitis pigmentosa phenotype. Conclusions: The mutated COL2A1 gene in Stickler Syndrome Type 1 represents a site of pleiotropy, highlighting a change in phenotype across the same genotype potentially due to tissue alternative splicing.