PMID: 11723059

Kassem SA, Ariel I, Thornton PS, Hussain K, Smith V, Lindley KJ, Aynsley-Green A, Glaser B
p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy.
Diabetes. 2001 Dec;50(12):2763-9., [PubMed]
Sentences
No. Mutations Sentence Comment
82 ABCC8 p.Asn188Ser
X
ABCC8 p.Asn188Ser 11723059:82:180
status: NEW
view ABCC8 p.Asn188Ser details
 Sex Birth weight (kg) Age of onset (months) Age at surgery (months) Postoperative status Paternal mutation Maternal mutation Diffuse HI 1 F 4.1 1.25 1.5 Hypoglycemic 3992-3 c to g N188S 2 M 3.6 Birth 1.6 Diabetes delcP317 delcP317 3 M 5.04 Birth 3.25 Hypoglycemic Kir Y12X Kir Y12X 4 M 4.4 Birth 13 Hypoglycemic 3992-9 g to a delF1388 Focal HI 5 M 5.36 Birth 0.5 Euglycemic 3992-9 g to a None found 6 M 3.19 Birth 2 Euglycemic R1494Q None found 7 F 3.3 5 6 Euglycemic No DNA - 8 F 3.25 Birth 0.833 Euglycemic None found* None found 9 M 4.18 Birth 1.25 Diabetes None found None found 10 M 3.61 Birth 5.5 Euglycemic None found None found 11 F 3 Birth 12 - No DNA - 12 M 4 Birth 1.5 Diabetes None found None found 13 M 3.9 Birth 2 Euglycemic No DNA - 14 M 3.8 Birth 3 Diabetes No DNA - 15 M 3.63 10 11 Euglycemic A1493T None found Subjects 1-13 were evaluated for p57K1P2 expression, whereas subjects 8-15 were evaluated for IGF-II expression. Login to comment