title: Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant.
abstract: BACKGROUND
  Transient and permanent neonatal diabetes mellitus (NDM), usually defined as diabetes diagnosed within the first 6 months of life, are rare conditions occurring in 1:90,000-260,000 live births. The origin of NDM is rarely related to type 1 diabetes, but rather to single gene defects.
  
  
  METHODS
  Genetic analysis was performed using targeted parallel sequencing including 323 diabetes genes. Data were filtered by a locally developed program.
  
  
  RESULTS
  A very low birth weight neonate born at 28 weeks postmenstrual age developed diabetes 13 days after birth. The patient was treated with continuous subcutaneous insulin infusion. After 1 month, insulin treatment could be stopped. At 18 months of age, the child was normoglycemic and developing normally. Genetic analysis revealed a novel variant (p.Pro190Leu) in HNF4A, which is located in the ligand binding domain of the transcription factor, and the p.Glu23Lys variant in KCNJ11, which is associated with type 2 diabetes.
  
  
  CONCLUSIONS
  Here, we describe a novel HNF4A variant associated with transient NDM in a premature infant. We hypothesize that the neonatal phenotype previously described in carriers of HNF4A mutations was modified by the additional variant in KCNJ11 and prematurity.
authors: Neonatology and Intensive Care Unit, University Hospitals of Geneva, Geneva, Switzerland.
authors: Sabrina
authors: S
authors: Anderson de la Llana
authors: Philippe
authors: P
authors: Klee
authors: Federico
authors: F
authors: Santoni
authors: Caroline
authors: C
authors: Stekelenburg
authors: Jean-Louis
authors: JL
authors: Blouin
authors: Valerie M
authors: VM
authors: Schwitzgebel
mesh_terms: D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D019102:Infant, Very Low Birth Weight; D007328:Insulin / Q000627:therapeutic use; D009154:Mutation; D016896:Treatment Outcome
chemical_list: C496592:HNF4A protein, human; D051557:Hepatocyte Nuclear Factor 4; D007004:Hypoglycemic Agents; D007328:Insulin