title: A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus.
abstract: Permanent neonatal diabetes mellitus is a rare disorder usually presenting within the first few weeks or months of life. This disorder is genetically heterogeneous and has been associated with mutations in various genes. The genetic cause remains mostly unknown although several genes have been linked to this disorder. Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50%-60% of the patients. With genetic studies, we hope to increase our knowledge of neonatal diabetes, whereby new treatment models can become possible. Here, we defined a new variant of a known mutation, INS Exon 1-3 homozygous deletion, in two siblings diagnosed with permanent neonatal diabetes mellitus.
authors.affiliation: Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Ankara, Turkey.
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
authors.forename: Semra
authors.initials: S
authors.lastname: Cetinkaya
authors.forename: Serife Suna
authors.initials: SS
authors.lastname: Oğuz
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D003922:Diabetes Mellitus, Type 1 / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D004342:Drug Hypersensitivity / Q000209:etiology; D005091:Exons; D005260:Female; D017353:Gene Deletion; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007328:Insulin / Q000172:deficiency* / Q000235:genetics* / Q000627:therapeutic use; D008297:Male; D035781:Siblings
chemical_list: D007328:Insulin