PMID: 25755231

Demirbilek H, Arya VB, Ozbek MN, Houghton JA, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJ, Flanagan SE, Hattersley AT, Ellard S, Hussain K
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.
Eur J Endocrinol. 2015 Jun;172(6):697-705. doi: 10.1530/EJE-14-0852. Epub 2015 Mar 9., [PubMed]
Sentences
No. Mutations Sentence Comment
95 ABCC8 p.Ser532Gly
X
ABCC8 p.Ser532Gly 25755231:95:419
status: NEW
view ABCC8 p.Ser532Gly details
 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. Login to comment