title: [Permanent neonatal diabetes and recessive mutation in the INS gene: a familial history].
abstract: Permanent neonatal diabetes mellitus is a rare disorder usually presenting within the first few weeks or months of life and defined by chronic hyperglycemia due to severe nonautoimmune insulin deficiency. Nonsyndromic neonatal diabetes is genetically heterogeneous and several genes have been linked to this disorder. Here, we report on a new homozygous recessive mutation in the INS gene in 2 siblings born to consanguineous parents and diagnosed with permanent neonatal diabetes without extrapancreatic features. Their clinically unaffected parents were heterozygous. Their phenotype was also characterized by severe intrauterine growth retardation, most likely reflecting severe insulin deficiency in prenatal life, hyperglycemia, and moderate dehydration in the first few days of life. Their clinical course was uneventful after introduction of insulin therapy with catch-up growth and acquisition of normal developmental milestones.
authors.affiliation: Service de pédiatrie, hôpital Nord, CHU de Saint-Étienne, 42055 St-Étienne cedex 02, France. maud.dibenedetto@gmail.com
authors.forename: M
authors.initials: M
authors.lastname: Di Benedetto
authors.forename: O
authors.initials: O
authors.lastname: Richard
authors.forename: P
authors.initials: P
authors.lastname: Pélissier
authors.forename: S
authors.initials: S
authors.lastname: Darteyre
authors.forename: H
authors.initials: H
authors.lastname: Cavé
authors.forename: J-L
authors.initials: JL
authors.lastname: Stéphan
mesh_terms: D003920:Diabetes Mellitus / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007328:Insulin / Q000235:genetics*; D008297:Male; D009154:Mutation
chemical_list: D007328:Insulin