2021
DOI: 10.1002/dmrr.3459
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ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications

Abstract: 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… Show more

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Cited by 14 publications
(8 citation statements)
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“…Timmers et al reviewed 55 cases with ABCC8 mutation (MODY 12) from literature. They found a large heterogeneity with various phenotypes ranging from mild IGT to insulin-dependent diabetes with sequelae [ 48 ]. A successful molecular genetic diagnosis has immense therapeutic significance for patients with ABCC8 mutations.…”
Section: Discussionmentioning
confidence: 99%
“…Timmers et al reviewed 55 cases with ABCC8 mutation (MODY 12) from literature. They found a large heterogeneity with various phenotypes ranging from mild IGT to insulin-dependent diabetes with sequelae [ 48 ]. A successful molecular genetic diagnosis has immense therapeutic significance for patients with ABCC8 mutations.…”
Section: Discussionmentioning
confidence: 99%
“…There are currently >50 cases reported. [ 17 ] Tarasov reported 3 cases of Y356C ABCC8 mutations, which caused insulin deficiency and high fasting blood glucose. [ 18 ] A missense mutation of ABCC8 gene was found in a 39-year-old French patient with normal weight and hyperglycemia, which tyrosine replaces cysteine (SUR1Y356C).…”
Section: Discussionmentioning
confidence: 99%
“…The underlying mechanism in the first case is the reduction of KATP channel sensitivity to ATP, while in the latter is the membrane hyperpolarization caused by Mg-nucleotide binding to nucleotide-binding domains of SUR1. (47,48) In addition, more than 90% of MODY patients affected by KCNJ11 or ABCC8 pathogenetic variants present a favorable response to oral treatment with sulfonylureas. (46) Similarly, mutations of PDX1 gene (MODY 4), which plays a crucial role in β-cell differentiation and function, are also associated with neonatal diabetes, T2DM, as well as ketosis-prone diabetes (KPD).…”
Section: Controversial Data Of Mody-related Genetic Backgroundmentioning
confidence: 99%