title: KCNJ11 in-frame 15-bp deletion leading to glibenclamide-responsive neonatal diabetes mellitus in a Chinese child.
abstract: The ATP-sensitive K+ channel controls insulin secretion from the islet. Mutations in KCNJ11 can cause permanent and transient neonatal diabetes. To date, more than 30 KCNJ11 mutations have been revealed as related to the onset of neonatal diabetes mellitus (NDM), most of which are responsive to glibenclamide treatment. In the present study, we sequenced the KCNJ11 gene in a Chinese girl diagnosed with NDM and in her parents. An in-frame 15-bp KCNJ11 deletion was identified in the patient, whereas no KCNJ11 deletions were found in her parents, indicating that this deletion was de novo. The patient was responsive to the treatment of glibenclamide. Ten months of follow-up showed that, besides permanent NDM, the motor and intelligence development of the girl was normal and she suffered no onset of convulsions. The result, to some degree, improved our knowledge on NDM.
authors.forename: Wenli
authors.initials: W
authors.lastname: Yang
authors.forename: Huiqin
authors.initials: H
authors.lastname: Wei
authors.forename: Yanmei
authors.initials: Y
authors.lastname: Sang
mesh_terms: D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005905:Glyburide / Q000627:therapeutic use*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use*; D007231:Infant, Newborn; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D017384:Sequence Deletion; D000099161:Kcnj11 Channel
chemical_list: D005905:Glyburide; D007004:Hypoglycemic Agents; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel