title: AV59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child.
abstract: Heterozygous activating mutations in the KCNJ11 gene can cause permanent and transient neonatal diabetes. In the present study, we sequenced the KCNJ11 gene in a Chinese boy diagnosed with permanent neonatal diabetes mellitus (PNDM) and also in his parents. A heterozygous 175G > A (V59M) mutation was identified in the patient, while no KCNJ11 gene mutations were found in his parents, indicating that this mutation is de novo. The patient with the V59M mutation successfully switched from insulin injections to oral glibenclamide; 2 years of follow-up revealed that the patient had intermediate developmental delay, epilepsy and neonatal diabetes (DEND) syndrome. This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China.
authors.affiliation: Department of Endocrinology, National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China. sangyanmei@yahoo.com
authors.forename: Yanmei
authors.initials: Y
authors.lastname: Sang
authors.forename: Guichen
authors.initials: G
authors.lastname: Ni
authors.forename: Yi
authors.initials: Y
authors.lastname: Gu
authors.forename: Min
authors.initials: M
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics*; D002658:Developmental Disabilities / Q000208:ethnology* / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000188:drug therapy / Q000208:ethnology* / Q000235:genetics*; D005905:Glyburide / Q000627:therapeutic use; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D008297:Male; D017354:Point Mutation / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D013577:Syndrome; D000099161:Kcnj11 Channel
chemical_list: D005905:Glyburide; D007004:Hypoglycemic Agents; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel