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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

Editorial Board: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2016: 1.233

CiteScore 2016: 1.09

SCImago Journal Rank (SJR) 2016: 0.527
Source Normalized Impact per Paper (SNIP) 2016: 0.602

Online
ISSN
2191-0251
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Volume 24, Issue 5-6

Issues

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

Zehra Aycan
  • Dr Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, Ankara, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Semra Çetinkaya
  • Dr Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, Ankara, Turkey
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Şerife Suna Oğuz / Serdar Ceylaner

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

About the article

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


Published in Print: 2011-06-01


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: https://doi.org/10.1515/jpem.2011.187.

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