Jump to ContentJump to Main Navigation

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Editorial Board Member: Darendeliler, Feyza / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Lanes M. D., Roberto / Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / LaFranchi, Stephen H. / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Wabitsch, Martin / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2013: 0.711

SCImago Journal Rank (SJR): 0.334
Source Normalized Impact per Paper (SNIP): 0.423

VolumeIssuePage

Issues

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

Zehra Aycan1 / 1 / Şerife Suna Oğuz2 / Serdar Ceylaner3

1Dr Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, Ankara, Turkey

2Dr Zekai Tahir Burak Women’s Health, Education and Research Hospital, Ankara, Turkey

3İntergen Genetic Diseases Diagnostic Center, Ankara, Turkey

Corresponding author: Semra Çetinkaya, Samur sokak 32/7 Kurtuluş, 06600, Ankara, Turkey Phone: +90 505 388 44 03, Fax: +90 312 317 03 53

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 24, Issue 5-6, Pages 373–375, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem.2011.187, June 2011

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.

Keywords: consanguinity; insulin gene; neonatal diabetes; new variant mutation; permanent

Comments (0)

Please log in or register to comment.