A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus

AYCAN Z., Çetinkaya S., Oǧuz Ş. S., CEYLANER S.

Journal of Pediatric Endocrinology and Metabolism, vol.24, no.5-6, pp.373-375, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 5-6
  • Publication Date: 2011
  • Doi Number: 10.1515/jpem.2011.187
  • Journal Name: Journal of Pediatric Endocrinology and Metabolism
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.373-375
  • Keywords: consanguinity, insulin gene, neonatal diabetes, new variant mutation, permanent, INSULIN GENE, INS GENE
  • Lokman Hekim University Affiliated: No

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. © 2011 by Walter de Gruyter Berlin Boston.