ABCMdb

ABCC8 p.Arg620Cys

None has been submitted yet.

Publications

PMID: 22210575 [PubMed] Riveline JP et al: "Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations."

No. Sentence Comment

38 Three mutations were previously reported (c.2476C.T/p.R826W in transient NDM [TNDM] (3,4,13), c.1252T.C/p.C418R and c.1858C.T/ p.R620C in congenital hyperinsulinism [CHI] (14,15)), and one mutation is novel (c.601C.G/p.P201S). Login to comment
42 Genotyping of C418R and R620C mutations in .4,000 normoglycemic individuals from the French Data from an Epidemiological Study on the Insulin Resistance Syndrome (D.E.S.I.R.) cohort (18) identified five and one carrier, respectively, suggesting that they may represent rare variants (population carrier frequency of 0.06 and 0.012%) likely not related to disease. Login to comment
51 We cannot exclude that two rare variants (C418R and R620C), as previously reported in CHI (14,15) and found here in two diabetic patients, are nonfunctional (i.e., nondeleterious). Login to comment
44 1-II.1 2-II.1 3-II.1 3-II.2 4-II.1 4-III.1 4-III.2 D-1 D-2 D-3 D-4 Sex Female Male Male Male Male Female Male Female Male Male Female Mutation R1380H C435R L582 V L582 V Y356C Y356C Y356C P201S C418R R620C R826 W c.4139G.A c.1303T.C c.1744C.G c.1744C.G c.1067A.G c.1067A.G c.1067A.G c.601C.G c.1252T.C c.1858C.T c.2476C.T Previous report NDM (11) NDM (2) NDM (2) d Type 2 diabetes (7) d d None rs67254669* rs58241708* TNDM (4,6,13) Features at diagnosis or at ascertainment Status Diabetes Diabetes Diabetes Diabetes Diabetes Impaired glucose toleranceߤ Normal glucose toleranceߤ Type 2 diabetes Type 2 diabetes Type 2 diabetes Type 2 diabetes Age (years)/BMI (kg/m 2 ) 17/24 15/20 36/21 32/37 39/26 35/20 33/22 53/22 53/31 46/25 49/28 Symptoms Polyuria Polyuria None Obesity None None None Tiredness Hyperglycemia Polyuria None Features at last examination Age (years) 63 39 38 37 74 35 33 80 74 56 58 SU treatment 15 mg/day glyburidex 15 mg/day glyburidex 5 mg/day glyburide 160 mg/day gliclazide 3 mg/day glimepiride None None Glyburide| Glimepiride| Glypizide Glimepiride HbA 1c (%)ߥ 7.3 6.7 6.2 6.4 6.5 5.5 ND 7.4 6.2 6.8 6.2 C-peptide (pmol/mL) 0.08 0.14 ND ND 3.00 ND ND 1.17 2.08 1.90 3.80 All mutations were identified heterozygously in the patients. Login to comment
59 We cannot exclude that two rare variants (C418R and R620C), as previously reported in CHI (14,15) and found here in two diabetic patients, are nonfunctional (i.e., nondeleterious). Login to comment