ABCC8 p.Ser532Gly
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PMID: 25755231
[PubMed]
Demirbilek H et al: "Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations."
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95
HM Permanent Yes No Normal NA No remission 15.18 KCNJ11 2 39/3000 4.8 Exon 1 c.602GOA (p.R201H) HT Permanent Yes No Normal Yes Successful transfer to SU therapy and weaned off insulin therapy 16.19 KCNJ11 13 40/2800 6.6 Exon 1 c.602GOA (p.R201H) HT Permanent No No Normal Yes Developmental delay, epilepsy, successful transfer to SU therapy and weaned off insulin therapy 17.20 ABCC8 3 40/2700 2.4 Exon 10 c.1594AOG (p.S532G) HT/novel Transient Yes No Normal NA Remission at the age of 3 months GW, gestation week; BW, birth weight; NDM, neonatal diabetes mellitus; HM, homozygous; HT, heterozygous; UPDPat6, paternal uniparental disomy on Chr6q24; F/H MD, family history of monogenic diabetes; EPI, exocrine pancreas insufficiency; SU-R, sulphonylurea response; SU, sulphonylurea. a Age at NDM diagnosis.
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ABCC8 p.Ser532Gly 25755231:95:419
status: NEW