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

Siri Fredheim; Jannet Svensson; Sven Pørksen; Lars Hansen; Torben Hansen; Oluf Borbye Pedersen; Henrik Bindesbøl Mortensen; Fabrizio Barbetti; Lotte Brøndum Nielsen

doi:10.1155/2011/258978

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

Siri Fredheim, Jannet Svensson, Sven Pørksen, Lars Hansen, Torben Hansen, Oluf Borbye Pedersen, Henrik Bindesbøl Mortensen, Fabrizio Barbetti, Lotte Brøndum Nielsen

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.

Originalsprog	Engelsk
Tidsskrift	Case Reports in Genetics
Vol/bind	2011
Sider (fra-til)	258978
DOI	https://doi.org/10.1155/2011/258978
Status	Udgivet - 2011

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10.1155/2011/258978

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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.",

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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}",

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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

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DO - 10.1155/2011/258978

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C2 - 23074673

SN - 2090-6552

VL - 2011

SP - 258978

JO - Case Reports in Genetics

JF - Case Reports in Genetics

ER -

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

Abstract

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