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

https://arctichealth.org/en/permalink/ahliterature101283
Source
J Pediatr Endocrinol Metab. 2011;24(5-6):373-5
Publication Type
Article
Date
2011
Author
Zehra Aycan
Semra Cetinkaya
Serife Suna Oguz
Serdar Ceylaner
Author Affiliation
Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Ankara, Turkey.
Source
J Pediatr Endocrinol Metab. 2011;24(5-6):373-5
Date
2011
Language
English
Publication Type
Article
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.
PubMed ID
21823539 View in PubMed
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