title: Diagnosis and treatment of neonatal diabetes: a United States experience.
abstract: OBJECTIVE
  Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50% of patients diagnosed with diabetes before 6 months of age and in a small fraction of those diagnosed between 6 and 12 months. The aim of this study was to identify the genetic cause of diabetes in 77 consecutive patients referred to the University of Chicago with diabetes diagnosed before 1 yr of age.
  
  
  METHODS
  We used Oragene DNA Self-Collection kit to obtain a saliva sample for DNA. We sequenced the protein-coding regions of KCNJ11, ABCC8, and INS using standard methods.
  
  
  RESULTS
  We enrolled 32 patients diagnosed with diabetes before 6 months of age and 45 patients diagnosed between 6 and 12 months. We identified a mutation in KCNJ11 in 14 patients from 12 families and in INS in 7 patients from 4 families. Three of the patients with an INS mutation were diagnosed with diabetes between 6 and 12 months of age. Finally, we found that two patients had an abnormality of chromosome 6q24 associated with transient neonatal diabetes mellitus.
  
  
  CONCLUSIONS
  We were able to establish a genetic cause of diabetes in 63% of patients diagnosed with diabetes before 6 months of age and in 7% of patients diagnosed between 6 and 12 months. Genetic testing, which is critical for guiding appropriate management, should be considered in patients diagnosed with diabetes before 1 yr of age, especially if they are autoantibody negative, although the presence of autoantibodies does not rule out a monogenic cause.
authors.affiliation: Department of Medicine, The University of Chicago, Chicago, IL 60637, USA.
authors.forename: Julie
authors.initials: J
authors.lastname: Støy
authors.forename: Siri Atma W
authors.initials: SA
authors.lastname: Greeley
authors.forename: Veronica P
authors.initials: VP
authors.lastname: Paz
authors.forename: Honggang
authors.initials: H
authors.lastname: Ye
authors.forename: Ashley N
authors.initials: AN
authors.lastname: Pastore
authors.forename: Kinga B
authors.initials: KB
authors.lastname: Skowron
authors.forename: Rebecca B
authors.initials: RB
authors.lastname: Lipton
authors.forename: Fran R
authors.initials: FR
authors.lastname: Cogen
authors.forename: Graeme I
authors.initials: GI
authors.lastname: Bell
authors.forename: Louis H
authors.initials: LH
authors.lastname: Philipson
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D048909:Diabetes Complications; D003922:Diabetes Mellitus, Type 1 / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005905:Glyburide / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007328:Insulin / Q000235:genetics* / Q000627:therapeutic use; D007859:Learning Disabilities / Q000209:etiology; D008297:Male; D010375:Pedigree; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011955:Receptors, Drug / Q000235:genetics*; D064233:Sulfonylurea Receptors; D014481:United States / Q000453:epidemiology; D000099161:Kcnj11 Channel
chemical_list: D018528:ATP-Binding Cassette Transporters; D005905:Glyburide; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel