ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications

More than 1000 variants of the ATP‐binding cassette transporter subfamily C member 8 (ABCC8) gene have been reported in neonatal diabetes mellitus. Up to now only 55 ABCC8 variants were associated with Maturity‐Onset Diabetes of the Young 12 (MODY12). We present a c.3544C>T p.(Arg1182Trp) ABCC8 v...

Full description

Saved in:
Bibliographic Details
Published in:Diabetes/metabolism research and reviews 2021-11, Vol.37 (8), p.e3459-n/a
Main Authors: Timmers, Marijke, Dirinck, Eveline, Lauwers, Patrick, Wuyts, Wim, De Block, Christophe
Format: Article
Language:English
Subjects:
ABCC8
Adult
Amputation
Case reports
Diabetes
Diabetes mellitus
Diabetes Mellitus, Type 2 - complications
Diabetes Mellitus, Type 2 - drug therapy
Diabetes Mellitus, Type 2 - genetics
diabetic complications
Diagnosis
Disease management
Female
Genetic diversity
Glucose Intolerance
Glucose tolerance
Humans
Infant, Newborn
Insulin
Literature reviews
Microvasculature
Middle Aged
MODY12
Mutation
Neonates
p.(Arg1182Trp)
Pathophysiology
review
Sulfonylurea Receptors - genetics
therapy
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:More than 1000 variants of the ATP‐binding cassette transporter subfamily C member 8 (ABCC8) gene have been reported in neonatal diabetes mellitus. Up to now only 55 ABCC8 variants were associated with Maturity‐Onset Diabetes of the Young 12 (MODY12). We present a c.3544C>T p.(Arg1182Trp) ABCC8 variant in a 35‐year‐old women who had pronounced microvascular diabetic complications and a charcot arthropathy necessitating a lower limb amputation. The unusual severity of the disease course prompted us to perform a systematic review of all genetic variants in MODY12. The present mutation has mostly been associated with neonatal diabetes and in only three papers reporting a MODY12. The 55 MODY12 variants show a large clinical heterogeneity, even in relatives with the same mutation, ranging from mild impaired glucose tolerance to severe insulin‐dependent diabetes mellitus. HbA1c at diagnosis ranged from 5% to 14% and age at diagnosis ranged from 2 to 53 years. However, several case reports lack documentation of diabetic complications. Hence, more detailed reports remain necessary to improve insight in MODY12 pathophysiology and outcome. In this article current data regarding therapeutic management are provided, and key points to consider for the individual patient affected by MODY12 are presented.
ISSN:1520-7552
1520-7560
DOI:10.1002/dmrr.3459