ABCMdb

ABCC8 p.Cys717*

None has been submitted yet.

Publications

PMID: 14692646 [PubMed] Suchi M et al: "Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations."

No. Sentence Comment

148 Clinical features, histologic diagnoses, and genotypes of HI patients Case no. Sex Age at surgery Type of pancreatectomy Immediate outcome Histology ABCC8 and KCNJ11 mutations (paternal/ maternala ) 1 F Newborn Near total Hypoglycemia Diffuse 3992-9 g to a/delF1388 2 F 5 m, 28 d Near total Hypoglycemia Diffuse ND 3 M 1 m, 14 d Near total Hypoglycemia Diffuse 3992-9 g to a/R1215Q 4 F 1 m, 6 d Near total Hypoglycemia Diffuse delF1388/3992-9 g to a 5 F 0 m, 28 d Near total Hypoglycemia Diffuse 3992-9 g to a/3992-9 g to a 6 M 0 m, 14 d Near total Hypoglycemia Diffuse 3992-9 g to a/delF1388 7 M 0 m, 17 d Near total Diabetes mellitus Diffuse 3992-9 g to a/3992-9 g to a 8 M 1 y, 11 m Near total Hypoglycemia Diffuse -/- 9 M 1 y, 2 m Near total Hypoglycemia Diffuse 3992-9 g to a/3992-9 g to a 10 M 1 m, 17 d Near total Hypoglycemia Diffuse ND 11 M 0 m, 27 d Near total Hypoglycemia Diffuse 3992-9 g to a/3992-9 g to a 12 F 1 m, 10 d Near total Hypoglycemia Diffuse ND 13 M 1 m, 3 d Partial Hypoglycemia Diffuse delF1388/3992-9 g to a 2 m, 24 d Partial Hypoglycemia Diffuse 2 y, 6 m Near total Hypoglycemia Diffuse 14 F 1 m, 7 d Near total Hypoglycemia Diffuse delF1388/3992-9 g to a 15 M 0 m, 16 d Near total Hypoglycemia Diffuse 3992-9 g to a/3992-9 g to a 16 F 1 y, 8 m Near total Hypoglycemia Diffuse -/- 17 F 4 m, 19 d Near total Diabetes mellitus Diffuse * G134Ab /* P266Lb 18 M 1 m, 5 d Near total Diabetes mellitus Diffuse * R74W/R1215Q 19 F 3 m, 27 d Near total Hypoglycemia Diffuse * R999X/* R598X 20 F Infant Near total Cure Focal ND 21 F 1 m, 16 d Near total Cure Focal ND 22 M 0 m, 13 d Near total Cure Focal ND 23 M 1 m, 7 d Near total Hypoglycemia Focal * 2116 ϩ 1 g to t (not maternal) 24 M 1 m, 26 d Near total Cure Focal ND 25 M 0 m, 15 d Near total Cure Focal 3992-9 g to a/- 26 M 1 m, 30 d Near total Cure Focal R1494Q/- 27 F 7 m, 24 d Near total Cure Focal -/- 28 M 0 m, 27 d 95% Hypoglycemia Normal 3992-9 g to a/- 1 m, 18 d Near total Hypoglycemia Focal 29 M 1 m, 27 d Near total Hypoglycemia Focal * 3576del g/- 2 m, 0 d Near total Hypoglycemia 2 m, 18 d Total Hypoglycemia 30 M 2 m, 28 d Near total Cure Focal * R74W/- 31 M 1 m, 2 d Near total Hypoglycemia Focal * C717X/- 32 F 1 m, 22 d Near total Cure Focal * 1874del c/- 33 M 2 m, 16 d 30% Cure Focal Q954X/- 34 F 2 m, 7 d 85% Hypoglycemia Normal ND 3 m, 4 d Near total Hypoglycemia Normal (continued) the patient underwent a mere 30% pancreatectomy. Login to comment

PMID: 14715863 [PubMed] Stanley CA et al: "Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation."

No. Sentence Comment

205 of alleles SUR1 region Exon 1 F27Sa 1 Exon 2 R74W 2 Exon 4 536-9 del atgga 1 Exon 4 N188S 1 Exon 5 ins 6a.a. 1 Exon 10 R495Qa 1 Exon 10 E501Ka 1 Intron 10 g 1630ϩ1 aa,b 1 Exon 12 R598X 1 Exon 13 1874 del c 1 Exon 15 F686Sa 1 Exon 16 C717X 1 Intron 24 c 2924-9 aa 1 Exon 24 2835-8 del agaga 2 Exon 24 Q954X 1 Exon 25 R999X 2 Exon 29 3576 del g 1 Exon 29 R1215Q 2 Exon 29 R1215Wa,b 2 Intron 32 g 3992-9 a 4 Exon 33 L1350Qa 1 Exon 33 G1401Ra 1 Exon 34 S1387F 1 Exon 34 delF1388 1 Exon 36 D1472Ha 1 Exon 36 D1472Na 1 Kir6.2 region A102Na 1 G134A 1 R136La 1 P266L 1 R301Ha 1 a Novel mutations. Login to comment

PMID: 16357843 [PubMed] Suchi M et al: "Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism."

No. Sentence Comment

93 KATP mutationsa Nuclear labeling of p57kip2 Microsatellite marker analysis at 11p15 Remarks on histology Lesion Islets in normal area 1 g3992-9a/ + ND 2 R1494Q/ + ND 3 V21D/ + ND 4 g3992-9a/ + ND 5 3576 del g/ Small lesion + ND 6 R74W/ Small normal area and weak Loss of maternal allele 7 C717X/ + Loss of maternal allele 8 1874 del c/ + ND 9 Q954X/ + ND 10 g3992-9g/ + Loss of maternal allele 11 E501K/ + Loss of maternal allele 12 R136Lb / Weak Loss of maternal allele 13 c2924-9a/ + Loss of maternal allele Focal lesion occupies large area of pancreas 14 g3992-9a/ + ND 15 3084 del g/ + ND 16 R302Hb / + Loss of maternal allele 17 g3992-9a/ + ND 18 536-539 del atgg/ + ND 19 R1215W/ + Loss of maternal allele 20 R999X/ + ND 21 L1350Q/ + ND 22 G1401R/ Weak Loss of maternal allele 23 g2041-21a/ + Loss of maternal allele 24 G7R/ Weak Loss of maternal allele 25 g3992-9a/ + Loss of maternal allele Rare nonadjacent large islet cell nuclei 26 g3992-9a/ + ND 27 Q954X/ + ND 28 delF1388/ + ND 29 Q472X/ + ND 30 G40Db / + Loss of maternal allele 31 S116Pb / + ND 32 g3992-9a/ + ND 33 g2116+1t, nonmaternal + ND 34 A101Db , nonmaternal Small normal area Loss of maternal allele Focal lesion occupies large area of pancreas 35 F27S, nonmaternal Weak Loss of maternal allele 36 G1379R, nonmaternal + ND 37 1631 del t, nonmaternal + ND 38 R1215W, nonmaternal + Loss of maternal allele 39 L503P, nonmaternal + Loss of maternal allele 40 F686S, de novo + Loss of maternal allele 41 1332+4 del c, maternalc + Loss of maternal allele 42 / + Loss of maternal allele 43 / + ND 44 / Small lesion + Loss of maternal allele 45 / + Loss of maternal allele 46 / + Loss of maternal allele 47 / + ND 48 / + Loss of maternal allele 49 / + ND 50 ND + ND 51 ND + ND 52 ND + Loss of maternal allele Rare nonadjacent large islet cell nuclei 53 ND + Loss of maternal allele Focal lesion occupies large area of pancreas All 10 pancreatic specimens studied from patients with diffuse hyperinsulinism did not show loss of p57kip2 labeling of the islet cell nuclei (data not shown). Login to comment