Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

EL Edghill; Sarah Flanagan; AM Patch; C Boustred; A Parrish; B Shields; MH Shepherd; K Hussain; RR Kapoor; M Malecki; MJ MacDonald; J Støy; DF Steiner; LH Philipson; GI Bell; Timothy Barrett

doi:10.2337/db07-1405

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

EL Edghill, Sarah Flanagan, AM Patch, C Boustred, A Parrish, B Shields, MH Shepherd, K Hussain, RR Kapoor, M Malecki, MJ MacDonald, J Støy, DF Steiner, LH Philipson, GI Bell, Timothy Barrett

Applied Health Research

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Abstract

OBJECTIVE: Insulin gene (INS) mutations have recently been described as a cause of permanent neonatal diabetes (PND). We aimed to determine the prevalence, genetics, and clinical phenotype of INS mutations in large cohorts of patients with neonatal diabetes and permanent diabetes diagnosed in infancy, childhood, or adulthood. RESEARCH DESIGN AND METHODS: The INS gene was sequenced in 285 patients with diabetes diagnosed before 2 years of age, 296 probands with maturity-onset diabetes of the young (MODY), and 463 patients with young-onset type 2 diabetes (nonobese, diagnosed

Original language	English
Pages (from-to)	1034-42
Number of pages	9
Journal	Diabetes
Volume	57
Issue number	4
DOIs	https://doi.org/10.2337/db07-1405
Publication status	Published - 1 Apr 2008

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10.2337/db07-1405

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Edghill, EL., Flanagan, S., Patch, AM., Boustred, C., Parrish, A., Shields, B., Shepherd, MH., Hussain, K., Kapoor, RR., Malecki, M., MacDonald, MJ., Støy, J., Steiner, DF., Philipson, LH., Bell, GI., & Barrett, T. (2008). Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes, 57(4), 1034-42. https://doi.org/10.2337/db07-1405

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title = "Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood",

abstract = "OBJECTIVE: Insulin gene (INS) mutations have recently been described as a cause of permanent neonatal diabetes (PND). We aimed to determine the prevalence, genetics, and clinical phenotype of INS mutations in large cohorts of patients with neonatal diabetes and permanent diabetes diagnosed in infancy, childhood, or adulthood. RESEARCH DESIGN AND METHODS: The INS gene was sequenced in 285 patients with diabetes diagnosed before 2 years of age, 296 probands with maturity-onset diabetes of the young (MODY), and 463 patients with young-onset type 2 diabetes (nonobese, diagnosed ",

author = "EL Edghill and Sarah Flanagan and AM Patch and C Boustred and A Parrish and B Shields and MH Shepherd and K Hussain and RR Kapoor and M Malecki and MJ MacDonald and J St{\o}y and DF Steiner and LH Philipson and GI Bell and Timothy Barrett",

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doi = "10.2337/db07-1405",

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Edghill, EL, Flanagan, S, Patch, AM, Boustred, C, Parrish, A, Shields, B, Shepherd, MH, Hussain, K, Kapoor, RR, Malecki, M, MacDonald, MJ, Støy, J, Steiner, DF, Philipson, LH, Bell, GI & Barrett, T 2008, 'Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood', Diabetes, vol. 57, no. 4, pp. 1034-42. https://doi.org/10.2337/db07-1405

TY - JOUR

T1 - Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

AU - Edghill, EL

AU - Flanagan, Sarah

AU - Patch, AM

AU - Boustred, C

AU - Parrish, A

AU - Shields, B

AU - Shepherd, MH

AU - Hussain, K

AU - Kapoor, RR

AU - Malecki, M

AU - MacDonald, MJ

AU - Støy, J

AU - Steiner, DF

AU - Philipson, LH

AU - Bell, GI

AU - Barrett, Timothy

PY - 2008/4/1

Y1 - 2008/4/1

N2 - OBJECTIVE: Insulin gene (INS) mutations have recently been described as a cause of permanent neonatal diabetes (PND). We aimed to determine the prevalence, genetics, and clinical phenotype of INS mutations in large cohorts of patients with neonatal diabetes and permanent diabetes diagnosed in infancy, childhood, or adulthood. RESEARCH DESIGN AND METHODS: The INS gene was sequenced in 285 patients with diabetes diagnosed before 2 years of age, 296 probands with maturity-onset diabetes of the young (MODY), and 463 patients with young-onset type 2 diabetes (nonobese, diagnosed

AB - OBJECTIVE: Insulin gene (INS) mutations have recently been described as a cause of permanent neonatal diabetes (PND). We aimed to determine the prevalence, genetics, and clinical phenotype of INS mutations in large cohorts of patients with neonatal diabetes and permanent diabetes diagnosed in infancy, childhood, or adulthood. RESEARCH DESIGN AND METHODS: The INS gene was sequenced in 285 patients with diabetes diagnosed before 2 years of age, 296 probands with maturity-onset diabetes of the young (MODY), and 463 patients with young-onset type 2 diabetes (nonobese, diagnosed

U2 - 10.2337/db07-1405

DO - 10.2337/db07-1405

M3 - Article

C2 - 18162506

SN - 0012-1797

VL - 57

SP - 1034

EP - 1042

JO - Diabetes

JF - Diabetes

IS - 4

ER -

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

Abstract

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