Standard

A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations. / Ovsyannikova, A. K.; Rymar, O. D.; Ivanoshchuk, D. E. et al.

In: Diabetes Therapy, Vol. 9, No. 1, 01.02.2018, p. 413-420.

Research output: Contribution to journal › Article › peer-review

Harvard

Ovsyannikova, AK, Rymar, OD, Ivanoshchuk, DE, Mikhailova, SV, Shakhtshneider, EV, Orlov, PS, Malakhina, ES & Voevoda, MI 2018, 'A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations', Diabetes Therapy, vol. 9, no. 1, pp. 413-420. https://doi.org/10.1007/s13300-017-0350-8

APA

Ovsyannikova, A. K., Rymar, O. D., Ivanoshchuk, D. E., Mikhailova, S. V., Shakhtshneider, E. V., Orlov, P. S., Malakhina, E. S., & Voevoda, M. I. (2018). A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations. Diabetes Therapy, 9(1), 413-420. https://doi.org/10.1007/s13300-017-0350-8

Vancouver

Ovsyannikova AK, Rymar OD, Ivanoshchuk DE, Mikhailova SV, Shakhtshneider EV, Orlov PS et al. A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations. Diabetes Therapy. 2018 Feb 1;9(1):413-420. doi: 10.1007/s13300-017-0350-8

Author

Ovsyannikova, A. K. ; Rymar, O. D. ; Ivanoshchuk, D. E. et al. / A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations. In: Diabetes Therapy. 2018 ; Vol. 9, No. 1. pp. 413-420.

BibTeX

@article{0b1b9e8b1ece40f38b0aa4120e29ecd7,
title = "A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations",
abstract = "Diabetes mellitus with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. The MODY phenotype is associated with gene mutations leading to pancreatic β-cell dysfunction. Here, we present the clinical case of a 50-year-old proband with familial diabetes mellitus in five generations (proband, her mother, grandmother, great-grandfather, and son). This disease is most likely associated with the novel Ser6Arg mutation in the HNF1A gene, which was identified in four family members. The mutation was not detected in MODY patients (126 subjects), in patients with type 2 diabetes mellitus (188 subjects), and in a general population sample (564 subjects).",
keywords = "Family history, HNF1A, Hyperglycemia, Insulin, Maturity onset diabetes of the young, MODY3, CLINICAL-DIAGNOSIS, HNF4A, PREVALENCE",
author = "Ovsyannikova, {A. K.} and Rymar, {O. D.} and Ivanoshchuk, {D. E.} and Mikhailova, {Svetlana V.} and Shakhtshneider, {E. V.} and Orlov, {P. S.} and Malakhina, {E. S.} and Voevoda, {M. I.}",
year = "2018",
month = feb,
day = "1",
doi = "10.1007/s13300-017-0350-8",
language = "English",
volume = "9",
pages = "413--420",
journal = "Diabetes Therapy",
issn = "1869-6953",
publisher = "Springer Publishing Company",
number = "1",

}

RIS

TY - JOUR

T1 - A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations

AU - Ovsyannikova, A. K.

AU - Rymar, O. D.

AU - Ivanoshchuk, D. E.

AU - Mikhailova, Svetlana V.

AU - Shakhtshneider, E. V.

AU - Orlov, P. S.

AU - Malakhina, E. S.

AU - Voevoda, M. I.

PY - 2018/2/1

Y1 - 2018/2/1

N2 - Diabetes mellitus with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. The MODY phenotype is associated with gene mutations leading to pancreatic β-cell dysfunction. Here, we present the clinical case of a 50-year-old proband with familial diabetes mellitus in five generations (proband, her mother, grandmother, great-grandfather, and son). This disease is most likely associated with the novel Ser6Arg mutation in the HNF1A gene, which was identified in four family members. The mutation was not detected in MODY patients (126 subjects), in patients with type 2 diabetes mellitus (188 subjects), and in a general population sample (564 subjects).

AB - Diabetes mellitus with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. The MODY phenotype is associated with gene mutations leading to pancreatic β-cell dysfunction. Here, we present the clinical case of a 50-year-old proband with familial diabetes mellitus in five generations (proband, her mother, grandmother, great-grandfather, and son). This disease is most likely associated with the novel Ser6Arg mutation in the HNF1A gene, which was identified in four family members. The mutation was not detected in MODY patients (126 subjects), in patients with type 2 diabetes mellitus (188 subjects), and in a general population sample (564 subjects).

KW - Family history

KW - HNF1A

KW - Hyperglycemia

KW - Insulin

KW - Maturity onset diabetes of the young

KW - MODY3

KW - CLINICAL-DIAGNOSIS

KW - HNF4A

KW - PREVALENCE

UR - http://www.scopus.com/inward/record.url?scp=85041731962&partnerID=8YFLogxK

U2 - 10.1007/s13300-017-0350-8

DO - 10.1007/s13300-017-0350-8

M3 - Article

C2 - 29222740

AN - SCOPUS:85041731962

VL - 9

SP - 413

EP - 420

JO - Diabetes Therapy

JF - Diabetes Therapy

SN - 1869-6953

IS - 1

ER -

ID: 10421615