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A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family.

Molecular and cellular biochemistry - 1 Sept 2007

Liu Limei, Furuta Hiroto, Minami Asako, Zheng Taishan, Jia Weiping, Nanjo Kishio, Xiang Kunsan

Abstract excerpt

OBJECTIVES: During examining the prevalence of mutations in NeuroD1/BETA2 gene in Chinese early-onset type 2 diabetic probands, a novel missense mutation, Ser159Pro in a potential MODY family was identified. To investigate the role of the mutation in early-onset diabetes, we studied its transcriptional activity on human insulin gene and clinical characteristics of the family with the mutation. METHODS:...

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PMID: 17440689
DOI: 10.1007/s11010-007-9463-0

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