Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation

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Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation. / Fredheim, Siri; Svensson, Jannet; Pørksen, Sven; Hansen, Lars; Hansen, Torben; Pedersen, Oluf Borbye; Mortensen, Henrik Bindesbøl; Barbetti, Fabrizio; Nielsen, Lotte Brøndum.

In: Case Reports in Genetics, Vol. 2011, 2011, p. 258978.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Fredheim, S, Svensson, J, Pørksen, S, Hansen, L, Hansen, T, Pedersen, OB, Mortensen, HB, Barbetti, F & Nielsen, LB 2011, 'Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation', Case Reports in Genetics, vol. 2011, pp. 258978. https://doi.org/10.1155/2011/258978

APA

Fredheim, S., Svensson, J., Pørksen, S., Hansen, L., Hansen, T., Pedersen, O. B., Mortensen, H. B., Barbetti, F., & Nielsen, L. B. (2011). Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation. Case Reports in Genetics, 2011, 258978. https://doi.org/10.1155/2011/258978

Vancouver

Fredheim S, Svensson J, Pørksen S, Hansen L, Hansen T, Pedersen OB et al. Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation. Case Reports in Genetics. 2011;2011:258978. https://doi.org/10.1155/2011/258978

Author

Fredheim, Siri ; Svensson, Jannet ; Pørksen, Sven ; Hansen, Lars ; Hansen, Torben ; Pedersen, Oluf Borbye ; Mortensen, Henrik Bindesbøl ; Barbetti, Fabrizio ; Nielsen, Lotte Brøndum. / Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation. In: Case Reports in Genetics. 2011 ; Vol. 2011. pp. 258978.

Bibtex

@article{b34cba5032c0493f8a52b0a781115689,
title = "Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation",
abstract = "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.",
keywords = "Journal Article",
author = "Siri Fredheim and Jannet Svensson and Sven P{\o}rksen and Lars Hansen and Torben Hansen and Pedersen, {Oluf Borbye} and Mortensen, {Henrik Bindesb{\o}l} and Fabrizio Barbetti and Nielsen, {Lotte Br{\o}ndum}",
year = "2011",
doi = "10.1155/2011/258978",
language = "English",
volume = "2011",
pages = "258978",
journal = "Case Reports in Genetics",
issn = "2090-6544",
publisher = "Hindawi Publishing Corporation",

}

RIS

TY - JOUR

T1 - Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation

AU - Fredheim, Siri

AU - Svensson, Jannet

AU - Pørksen, Sven

AU - Hansen, Lars

AU - Hansen, Torben

AU - Pedersen, Oluf Borbye

AU - Mortensen, Henrik Bindesbøl

AU - Barbetti, Fabrizio

AU - Nielsen, Lotte Brøndum

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1155/2011/258978

DO - 10.1155/2011/258978

M3 - Journal article

C2 - 23074673

VL - 2011

SP - 258978

JO - Case Reports in Genetics

JF - Case Reports in Genetics

SN - 2090-6544

ER -

ID: 174686325