Identification of the first Japanese family with PDX1-MODY (MODY4): a novel PDX1 frameshift mutation, clinical characteristics, and implications

Satoshi Yoshiji, Yukio Horikawa, Sodai Kubota, Mayumi Enya, Yorihiro Iwasaki, Yamato Keidai, Megumi Aizawa-Abe, Kanako Iwasaki, Sachiko Honjo, Kazuyoshi Hosomichi, Daisuke Yabe & Akihiro Hamasaki
Context The PDX1 encodes pancreatic and duodenal homeobox, a critical transcription factor for pancreatic β-cell differentiation and maintenance of mature β-cells. Heterozygous loss-of-function mutations cause PDX1-MODY (MODY4). Case description The patient is an 18-year-old lean man who developed diabetes at 16 years of age. Given his early-onset age and leanness, we performed genetic testing. Targeted-next generation sequencing and subsequent Sanger sequencing detected a novel heterozygous frameshift mutation (NM_00209.4:c.218delT. NP_000200.1: p.Leu73Profs*50) in the PDX1 transactivation domain...
1 citation reported since publication in 2021.
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