A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus

Wei-Lun Chang; Chun-Jui Huang; Tsun-Hsiang Lei; Dau-Ming Niu; Chih-Yang Chiu; Tjin-Shing Jap

doi:10.1016/j.diabres.2013.12.058

A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus

Diabetes Res Clin Pract. 2014 Apr;104(1):e29-32. doi: 10.1016/j.diabres.2013.12.058. Epub 2014 Jan 8.

Authors

Wei-Lun Chang¹, Chun-Jui Huang¹, Tsun-Hsiang Lei¹, Dau-Ming Niu², Chih-Yang Chiu³, Tjin-Shing Jap⁴

Affiliations

¹ Division of Endocrinology and Metabolism, Department of Medicine, Taipei, Taiwan, ROC.
² Section of Molecular Genetics, Department of Pediatrics, Taipei, Taiwan, ROC.
³ Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
⁴ Division of Endocrinology and Metabolism, Department of Medicine, Taipei, Taiwan, ROC. Electronic address: tsjap@vghtpe.gov.tw.

PMID: 24468099
DOI: 10.1016/j.diabres.2013.12.058

Abstract

A 4-month-old male baby was diagnosed with Permanent Neonatal Diabetes Mellitus. We identified a novel missense heterogeneous mutation in the KCNJ11 gene at codon 167 (aTC→tTC) in a region that corresponds to a predicted intracellular gate of the ATP-sensitive potassium channel.

Keywords: Chinese; KCNJ11 mutation; Permanent neonatal diabetes mellitus; Sulfonylurea.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Biomarkers / blood
DNA / genetics*
DNA Mutational Analysis
Diabetes Mellitus / blood
Diabetes Mellitus / genetics*
Humans
Infant
Male
Mutation, Missense*
Potassium Channels, Inwardly Rectifying / genetics*
Potassium Channels, Inwardly Rectifying / metabolism

Substances

Biomarkers
Kir6.2 channel
Potassium Channels, Inwardly Rectifying
DNA

Supplementary concepts

Diabetes Mellitus, Permanent Neonatal