ABCC8 p.Trp898Cys
| Predicted by SNAP2: | A: D (59%), C: N (57%), D: D (75%), E: D (66%), F: N (61%), G: D (63%), H: N (53%), I: D (59%), K: D (71%), L: N (53%), M: N (57%), N: D (59%), P: D (80%), Q: D (59%), R: D (66%), S: N (57%), T: D (53%), V: D (53%), Y: N (78%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, Y: D, |
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[hide] Prevalence of permanent neonatal diabetes in Slova... J Clin Endocrinol Metab. 2007 Apr;92(4):1276-82. Epub 2007 Jan 9. 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., [PMID:17213273]
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CONTEXT: Mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic beta-cell K(ATP) channel have recently been shown to be the most common cause of permanent neonatal diabetes mellitus (PNDM). Information regarding the frequency of PNDM has been based mainly on nonpopulation or short-term collections only. Thus, the aim of this study was to identify the incidence of PNDM in Slovakia and to switch patients to sulfonylurea (SU) where applicable. DESIGN: We searched for PNDM patients in the Slovak Children Diabetes Registry. In insulin-treated patients who matched the clinical criteria for PNDM, the KCNJ11 or ABCC8 genes were sequenced, and mutation carriers were invited for replacement of insulin with SU. RESULTS: Eight patients with diabetes onset before the sixth month of life without remission were identified since 1981, which corresponds to the PNDM incidence in Slovakia of one case in 215,417 live births. In four patients, three different KCNJ11 mutations were found (R201H, H46Y, and L164P). Three patients with the KCNJ11 mutations (R201H and H46Y) were switched from insulin to SU, decreasing their glycosylated hemoglobin from 9.3-11.0% on insulin to 5.7-6.6% on SU treatment. One patient has a novel V86A mutation in the ABCC8 gene and was also substituted with SU. CONCLUSIONS: PNDM frequency in Slovakia is much higher (one in 215,417 live births) than previously suggested from international estimates (about one in 800,000). We identified one ABCC8 and four KCNJ11 mutation carriers, of whom four were successfully transferred to SU, dramatically improving their diabetes control and quality of life.
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No. Sentence Comment
97 In 2002, he was diagnosed with the Wolcott-Rallison syndrome with mutations in the EIF2AK3 gene (compound heterozygous for W898C and L1057P mutations) (29).
X
ABCC8 p.Trp898Cys 17213273:97:123
status: NEW