title: Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene.
abstract: Mutations in the KCNJ11 gene are responsible for the majority of permanent neonatal diabetes mellitus (PNDM) cases. Some mutations in this gene, including p.Q52R, are associated with the developmental delay, epilepsy, neonatal diabetes (DEND) syndrome. We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p.Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome. This case suggests that not all Q52 mutations in the KCNJ11 gene are necessarily related to DEND syndrome.
authors.forename: Hakan
authors.initials: H
authors.lastname: Doneray
authors.forename: Jayne
authors.initials: J
authors.lastname: Houghton
authors.forename: Kadir Serafettin
authors.initials: KS
authors.lastname: Tekgunduz
authors.forename: Ferat
authors.initials: F
authors.lastname: Balkir
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Caner
mesh_terms: D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D007328:Insulin / Q000627:therapeutic use; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D013453:Sulfonylurea Compounds / Q000627:therapeutic use; D000099161:Kcnj11 Channel
chemical_list: D007004:Hypoglycemic Agents; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel