Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation
Joint Authors
Pedersen, Oluf Borbye
Pørksen, Sven
Mortensen, Henrik Bindesbøl
Svensson, Jannet
Hansen, Torben
Nielsen, Lotte Brøndum
Fredheim, Siri
Barbetti, Fabrizio
Hansen, Lars
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-06-30
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Aim.
The objective of this study was to describe the clinical characteristics of two siblings and their father carrying a C95Y mutation in the insulin (INS) gene.
Methods/Results.
A Danish patient, his sister, and his father were identified to carry the C95Y mutation in the preproinsulin molecule causing permanent neonatal diabetes.
All three were diagnosed before 29 weeks of age, were born at term with near-normal birth weight, and were negative for GAD, ICA, IA-2, and IAA autoantibodies.
The daily insulin requirement the first six months after diagnosis was <0.5 U kg−1 day−1 for both children.
The father, insulin treated for over 40 years, has bilateral preproliferative retinopathy.
Conclusions.
These three cases further confirm the essential features of diabetes caused by INS mutations with proteotoxic effect.
We conclude that patients with similar features must be investigated for mutations of INS gene.
American Psychological Association (APA)
Fredheim, Siri& Svensson, Jannet& Pørksen, Sven& Hansen, Lars& Hansen, Torben& Pedersen, Oluf Borbye…[et al.]. 2011. Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation. Case Reports in Genetics،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-458134
Modern Language Association (MLA)
Fredheim, Siri…[et al.]. Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation. Case Reports in Genetics No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-458134
American Medical Association (AMA)
Fredheim, Siri& Svensson, Jannet& Pørksen, Sven& Hansen, Lars& Hansen, Torben& Pedersen, Oluf Borbye…[et al.]. Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation. Case Reports in Genetics. 2011. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-458134
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-458134