A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma,Genetic Testing and Molecular Biomarkers

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A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma
Genetic Testing and Molecular Biomarkers ( IF 1.4 ) Pub Date : 2021-07-19 , DOI: 10.1089/gtmb.2021.0030
Xiaoyan Guo ₁ , Shunyou Chen ₂ , Mingrui Lin ₃ , Yuancheng Pan ₂ , Nannan Liu ₄ , Tengfei Shi ₁

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Background: Multiple osteochondroma (MO), an autosomal dominant genetic disease, is caused by heterozygous mutations in the EXT1 and EXT2 genes. Approximately 80% of pathogenic mutations are nonsense/missense mutations, small indels, and splicing mutations. Splicing mutations, particularly at the 3′ and 5′ splice sites, disrupt normal mRNA processing and cause exon skipping or aberrant splicing, ultimately resulting in protein truncation and loss of function.

更新日期：2021-07-20

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