A novel mutation KCNJ11 R136C caused KCNJ11-MODY

Yaning Chen; Xiaodong Hu; Jia Cui; Mingwei Zhao; Hebin Yao

doi:10.1186/s13098-021-00708-6

A novel mutation KCNJ11 R136C caused KCNJ11-MODY

Diabetol Metab Syndr. 2021 Aug 31;13(1):91. doi: 10.1186/s13098-021-00708-6.

Authors

Yaning Chen¹, Xiaodong Hu¹, Jia Cui¹, Mingwei Zhao¹, Hebin Yao²

Affiliations

¹ Department of Endocrinology, Sixth Medical Center of PLA General Hospital, 6# Fucheng Road, Haidian District, Beijing, 100048, China.
² Department of Endocrinology, Sixth Medical Center of PLA General Hospital, 6# Fucheng Road, Haidian District, Beijing, 100048, China. yhb196321@163.com.

Abstract

A young female patient, diagnosed with diabetes mellitus at the age of 28 years old in 2009, carries KCNJ11 R136C by whole exome sequencing and her daughter doesn't carry this mutation. Bioinformatics software predicted that the 136th amino acid is highly conservative and the mutation is deleterious. KCNJ11 R136C can result in the change of channel port structure of K_ATP channel. So she was diagnosed as KCNJ11-MODY.

Keywords: Diabetes mellitus; KATP channel; KCNJ11-MODY.