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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).

Details

Title
A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations
Author
Ovsyannikova, A. K. 1 ; Rymar, O. D. 2 ; Ivanoshchuk, D. E. 3 ; Mikhailova, Svetlana V. 4 ; Shakhtshneider, E. V. 1 ; Orlov, P. S. 3 ; Malakhina, E. S. 5 ; Voevoda, M. I. 3 

1  Siberian Branch of Russian Academy of Sciences, Institute of Internal and Preventive Medicine – branch of Institute of Cytology and Genetics, Novosibirsk, Russia (GRID:grid.415877.8) (ISNI:0000 0001 2254 1834); Novosibirsk State University, Novosibirsk, Russia (GRID:grid.4605.7) (ISNI:0000000121896553) 
2  Siberian Branch of Russian Academy of Sciences, Institute of Internal and Preventive Medicine – branch of Institute of Cytology and Genetics, Novosibirsk, Russia (GRID:grid.415877.8) (ISNI:0000 0001 2254 1834) 
3  Siberian Branch of Russian Academy of Sciences, Institute of Internal and Preventive Medicine – branch of Institute of Cytology and Genetics, Novosibirsk, Russia (GRID:grid.415877.8) (ISNI:0000 0001 2254 1834); Novosibirsk State University, Novosibirsk, Russia (GRID:grid.4605.7) (ISNI:0000000121896553); Siberian Branch of Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia (GRID:grid.415877.8) (ISNI:0000 0001 2254 1834) 
4  Siberian Branch of Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia (GRID:grid.415877.8) (ISNI:0000 0001 2254 1834) 
5  Novosibirsk State University, Novosibirsk, Russia (GRID:grid.4605.7) (ISNI:0000000121896553); Siberian Branch of Russian Academy of Sciences, Institute of Molecular and Cellular Biology, Novosibirsk, Russia (GRID:grid.415877.8) (ISNI:0000 0001 2254 1834) 
Pages
413-420
Publication year
2018
Publication date
Feb 2018
Publisher
Springer Nature B.V.
ISSN
18696953
e-ISSN
18696961
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1007/s13300-017-0350-8
ProQuest document ID
3223756082
Copyright
Copyright Springer Nature B.V. Feb 2018