Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p36 | Diabetes and Insulin | IMPE2023

Clinical presentation of Japanese patients with KCNK16-MODY

Matsui Katsuyuki , Tagawa Koji , Nagai Shizuyo , Maruo Yoshihiro , Suzuki Hisato , Yamada Mamiko , Kosaki Kenjiro

Objectives: KCNK16 gene encodes the two-pore-domain K+ channel, TALK-1, which is expressed on both the β-cell plasma membrane and the ER membrane. The KCNK16-containing locus is strongly associated with type 2 diabetes mellitus in multiple genome-wide association studies in the general population. Its mutation inducing a gain of function in TALK-1 has been recently reported to cause MODY. No case of KCNK16-MODY has been reported to date besides the family...