ABCMdb

PMID: 17213273

Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.
J Clin Endocrinol Metab. 2007 Apr;92(4):1276-82. Epub 2007 Jan 9., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC8 p.Val86Ala One patient has a novel V86A mutation in the ABCC8 gene and was also substituted with SU. Login to comment 97 ABCC8 p.Trp898Cys In 2002, he was diagnosed with the Wolcott-Rallison syndrome with mutations in the EIF2AK3 gene (compound heterozygous for W898C and L1057P mutations) (29). Login to comment 108 ABCC8 p.Val86Ala SK-1 SK-2 SK-3 SK-4 SK-5 SK-6 SK-7 SK-8 Diagnosis KCNJ11 mutation R201H KCNJ11 mutation L164P, VHC PNDM, unknown etiologya KCNJ11 mutation H46Y Wolcott-Rallison syndrome KCNJ11 mutation R201H Intermediate DEND, not analyzed ABCC8 mutation V86A Gender Female Female Male Female Male Male Female Male Birth weight (g) 3000 2600 2450 3500 3750 2480 1450 2900 Gestation (wk) 39 40 40 40 42 40 37 40 DM onset (wk) 18 5 10 15 11 4 Ͻ1 9 Dysmorphic features No No No Mild No No Yes No Seizures No No No No No No No No Developmental delay No No No No No No Yes No Autoantibodies Negative Negative Negative Negative Negative Negative Negative Negative Therapy after onset Insulin Insulin Insulin Insulin Insulin Insulin Insulin Insulin Insulin (IU/kg⅐d) 0.6 1.24 0.8 1 0.8 0.66 0.5 0.45 C-peptide (ng/ml) 0.01 0.01 0.42 0.04 0.18 0.11 0.12 0.01 Current status Current age (yr) 25 19 13 12 11 11 Deceased at 18 months 5 Current therapy SU Insulin Insulin SU Insulin SU Insulin SU Current HbA1c (%) 7.0 15.2 12.2 6.6 15.1 5.7 Not available 6.9 DM, Diabetes mellitus; VHC, virus hepatitis C. a Negative for mutations in KCNJ11, SUR1, IPF1, and NEUROD1 genes. Login to comment 111 ABCC8 p.Val86Ala ABCC8 p.Val86Ala ABCC8 p.Val86Ala V86A (c.257TϾC) is a novel mutation in exon 2 of the ABCC8 gene that results in the substitution of alanine for valine at codon 86 (p.Val86Ala). Login to comment 118 ABCC8 p.Val86Ala Clinical characteristics of the ABCC8 mutation carrier Patient SK-8 with the V86A mutation was born in the 40th gestational week with birth weight of 2800 g and developed diabetes in his second month of life as manifested with polyuria, polydipsia, and failure to thrive during a respiratory tract infection. Login to comment