Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations

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

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Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. / Gonsorcikova, Lucie; Vaxillaire, Martine; Pruhova, Stepanka; Dechaume, Aurélie; Dusatkova, Petra; Cinek, Ondrej; Pedersen, Oluf; Froguel, Philippe; Hansen, Torben; Lebl, Jan.

In: Pediatric Diabetes, Vol. 12, No. 3pt2, 01.05.2011, p. 266-9.

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

Harvard

Gonsorcikova, L, Vaxillaire, M, Pruhova, S, Dechaume, A, Dusatkova, P, Cinek, O, Pedersen, O, Froguel, P, Hansen, T & Lebl, J 2011, 'Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations', Pediatric Diabetes, vol. 12, no. 3pt2, pp. 266-9. https://doi.org/10.1111/j.1399-5448.2010.00719.x

APA

Gonsorcikova, L., Vaxillaire, M., Pruhova, S., Dechaume, A., Dusatkova, P., Cinek, O., Pedersen, O., Froguel, P., Hansen, T., & Lebl, J. (2011). Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. Pediatric Diabetes, 12(3pt2), 266-9. https://doi.org/10.1111/j.1399-5448.2010.00719.x

Vancouver

Gonsorcikova L, Vaxillaire M, Pruhova S, Dechaume A, Dusatkova P, Cinek O et al. Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. Pediatric Diabetes. 2011 May 1;12(3pt2):266-9. https://doi.org/10.1111/j.1399-5448.2010.00719.x

Author

Gonsorcikova, Lucie ; Vaxillaire, Martine ; Pruhova, Stepanka ; Dechaume, Aurélie ; Dusatkova, Petra ; Cinek, Ondrej ; Pedersen, Oluf ; Froguel, Philippe ; Hansen, Torben ; Lebl, Jan. / Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. In: Pediatric Diabetes. 2011 ; Vol. 12, No. 3pt2. pp. 266-9.

Bibtex

@article{53e2453937da403e8a46375ef3825194,
title = "Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations",
abstract = "We present a unique case of a 19-year-old man with a positive family history of persistent mild hyperglycemia and a novel V84I mutation in ABCC8. The proband was initially detected to have fasting hyperglycemia (ranging 6.1-6.4 mmol/L) at the age of 12 years. Increased fasting blood glucose was also subsequently detected in five additional family members (in his twin brother, sister, mother, maternal aunt, and grandfather). The grandfather has been known to have mild diabetes since 30 years and has never been treated. After having excluded a causative mutation in five maturity-onset diabetes of the young genes (MODY1-4 and 6), we identified a novel ABCC8 V84I mutation, which segregated with autosomal dominant transmission of mild hyperglycemia within three generations. This mutation that is located in a conserved area of transmembrane domain TMD0 seems to be a rare cause of clinical phenotype resembling glucokinase-deficient diabetes.",
keywords = "ATP-Binding Cassette Transporters, Adolescent, Adult, Child, Genes, Dominant, Humans, Hyperglycemia, Male, Middle Aged, Potassium Channels, Inwardly Rectifying, Receptors, Drug, Young Adult",
author = "Lucie Gonsorcikova and Martine Vaxillaire and Stepanka Pruhova and Aur{\'e}lie Dechaume and Petra Dusatkova and Ondrej Cinek and Oluf Pedersen and Philippe Froguel and Torben Hansen and Jan Lebl",
note = "{\textcopyright} 2011 John Wiley & Sons A/S.",
year = "2011",
month = may,
day = "1",
doi = "10.1111/j.1399-5448.2010.00719.x",
language = "English",
volume = "12",
pages = "266--9",
journal = "Pediatric Diabetes",
issn = "1399-543X",
publisher = "Wiley-Blackwell",
number = "3pt2",

}

RIS

TY - JOUR

T1 - Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations

AU - Gonsorcikova, Lucie

AU - Vaxillaire, Martine

AU - Pruhova, Stepanka

AU - Dechaume, Aurélie

AU - Dusatkova, Petra

AU - Cinek, Ondrej

AU - Pedersen, Oluf

AU - Froguel, Philippe

AU - Hansen, Torben

AU - Lebl, Jan

N1 - © 2011 John Wiley & Sons A/S.

PY - 2011/5/1

Y1 - 2011/5/1

N2 - We present a unique case of a 19-year-old man with a positive family history of persistent mild hyperglycemia and a novel V84I mutation in ABCC8. The proband was initially detected to have fasting hyperglycemia (ranging 6.1-6.4 mmol/L) at the age of 12 years. Increased fasting blood glucose was also subsequently detected in five additional family members (in his twin brother, sister, mother, maternal aunt, and grandfather). The grandfather has been known to have mild diabetes since 30 years and has never been treated. After having excluded a causative mutation in five maturity-onset diabetes of the young genes (MODY1-4 and 6), we identified a novel ABCC8 V84I mutation, which segregated with autosomal dominant transmission of mild hyperglycemia within three generations. This mutation that is located in a conserved area of transmembrane domain TMD0 seems to be a rare cause of clinical phenotype resembling glucokinase-deficient diabetes.

AB - We present a unique case of a 19-year-old man with a positive family history of persistent mild hyperglycemia and a novel V84I mutation in ABCC8. The proband was initially detected to have fasting hyperglycemia (ranging 6.1-6.4 mmol/L) at the age of 12 years. Increased fasting blood glucose was also subsequently detected in five additional family members (in his twin brother, sister, mother, maternal aunt, and grandfather). The grandfather has been known to have mild diabetes since 30 years and has never been treated. After having excluded a causative mutation in five maturity-onset diabetes of the young genes (MODY1-4 and 6), we identified a novel ABCC8 V84I mutation, which segregated with autosomal dominant transmission of mild hyperglycemia within three generations. This mutation that is located in a conserved area of transmembrane domain TMD0 seems to be a rare cause of clinical phenotype resembling glucokinase-deficient diabetes.

KW - ATP-Binding Cassette Transporters

KW - Adolescent

KW - Adult

KW - Child

KW - Genes, Dominant

KW - Humans

KW - Hyperglycemia

KW - Male

KW - Middle Aged

KW - Potassium Channels, Inwardly Rectifying

KW - Receptors, Drug

KW - Young Adult

U2 - 10.1111/j.1399-5448.2010.00719.x

DO - 10.1111/j.1399-5448.2010.00719.x

M3 - Journal article

C2 - 21214702

VL - 12

SP - 266

EP - 269

JO - Pediatric Diabetes

JF - Pediatric Diabetes

SN - 1399-543X

IS - 3pt2

ER -

ID: 35312536