Article
An intron mutation of HNF1A causes abnormal splicing and impairs its activity as a transcription factor.
Molecular and cellular endocrinology - 5 Apr 2022
Wang Min, Shu Hua, Xie Jing, Huang Yadi, Wang Kunling, Feng Renrui, Yu Xiaomeng, Guan Jun, Feng Wenli, Liu Ming
Abstract excerpt
Mutations in HNF1A are associated with Maturity Onset Diabetes of the Young type 3 (MODY3) and most of them are in the coding region. Herein, we identified an intron mutation at the 6th nucleotide upstream of the end of intron 7 of HNF1A, named IVS7-6G > A, in a patient with early-onset diabetes. The "minigene" assay showed that IVS7-6G > A produced two aberrant mRNA variants translating into two truncated...
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