Pleiotropy of a Stickler syndrome genotype

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 Typ...

Full description

Saved in:
Bibliographic Details
Published in:European journal of ophthalmology 2022-11, Vol.32 (6), p.NP10-NP12
Main Authors: Baiyasi, Ahmad, Barbosa, Joshua, Parendo, Anthony, Lin, Xihui
Format: Article
Language:English
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1120-6721
1724-6016
DOI:10.1177/11206721211035611