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Identification of the synonymous variant c.3141G > A in TNRC6B gene that altered RNA splicing by minigene assay.

Molecular biology reports - 8 Aug 2024

Zhou Feiyu, Zhong Hongping, Wu Bo, Cui Yaqiong, Li Jiaci, Jia Xiaodong, Yu Changshun, Li Dong, Shu Jianbo, Cai Chunquan

Abstract excerpt

BACKGROUND: Global developmental delay with speech and behavioral abnormalities (OMIM: 619243) is an autosomal dominant disease caused by variants in TNRC6B gene. METHOD: We reviewed and summarized clinical manifestations and genotypes in patients previously reported with TNRC6B gene variants. We used several prediction tools to predict pathogenicity and performed minigene assays to verify the function of the...

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PMID: 39115759
DOI: 10.1007/s11033-024-09835-5

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