Identification and functional characteristics of a novel splicing heterozygote variant of COL2A1 associated with Stickler syndrome type I

Identification and functional characteristics of a novel splicing heterozygote variant of COL2A1 associated with Stickler syndrome type I

BackgroundStickler syndrome type I (STL1) is an autosomal dominant disorder characterized by ocular, auditory, orofacial, and skeletal anomalies. The main causes of STL1 are variants in the COL2A1 gene, which encodes a type II collagen precursor protein. The specific focus of this study was on a new...

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Bibliographic Details
Main Authors: Yujing Gong, Weijian Zhu, Mianmian Zhu, Dan Chen, Sunke Wu, Sisi Hu, Yi Luo, Yiyi Jiang, Ting Zhu, Dan Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-07-01
Series:Frontiers in Genetics
Subjects:
Stickler syndrome
functional analysis
COL2A1 gene
intron heterozygote variant
type II collagenopathies
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1308737/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2024.1308737/full

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