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Article

A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.

Journal of cellular and molecular medicine - 1 Mar 2022

Liu Xiuzhen, Dong Hongliang, Gong Yuerong, Wang Lianqing, Zhang Ruyi, Zheng Tihua, Zheng Yuxi, Shen Shuang, Zheng Chelsea, Tian Mingming, Liu Naiguo, Zhang Xiaolin, Zheng Qing Yin

Abstract excerpt

Stickler syndrome type I (STL1, MIM 108300) is characterized by ocular, auditory, skeletal and orofacial manifestations. Nonsyndromic ocular STL1 (MIM 609508) characterized by predominantly ocular features is a subgroup of STL1, and it is inherited in an autosomal dominant manner. In this study, a novel variant c.T100>C (p.Cys34Arg) in COL2A1 related to a large nonsyndromic ocular STL1 family was identified...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35064646
DOI: 10.1111/jcmm.17187
PMCID: PMC8899160

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