A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.
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.
Division of Endocrinology and Metabolism, Department of Medicine, Taipei, Taiwan, ROC.
Wei-Lun
WL
Chang
Division of Endocrinology and Metabolism, Department of Medicine, Taipei, Taiwan, ROC.
Chun-Jui
CJ
Huang
Division of Endocrinology and Metabolism, Department of Medicine, Taipei, Taiwan, ROC.
Tsun-Hsiang
TH
Lei
Section of Molecular Genetics, Department of Pediatrics, Taipei, Taiwan, ROC.
Dau-Ming
DM
Niu
Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
Chih-Yang
CY
Chiu
Division of Endocrinology and Metabolism, Department of Medicine, Taipei, Taiwan, ROC. Electronic address: tsjap@vghtpe.gov.tw.
Tjin-Shing
TS
Jap
D015415:Biomarkers / Q000097:blood; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics* / Q000378:metabolism; D000099161:Kcnj11 Channel
D015415:Biomarkers; D004247:DNA; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel
Chinese; KCNJ11 mutation; Permanent neonatal diabetes mellitus; Sulfonylurea