ABCMdb

PMID: 14692646

Suchi M, MacMullen C, Thornton PS, Ganguly A, Stanley CA, Ruchelli ED
Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations.
Pediatr Dev Pathol. 2003 Jul-Aug;6(4):322-33., [PubMed]

Sentences

No. Mutations Sentence Comment

148 ABCC8 p.Arg74Trp ABCC8 p.Arg74Trp ABCC8 p.Arg598* ABCC8 p.Cys717* 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 172 ABCC8 p.Arg598* Patient no. 19 was compound heterozygous for two novel nonsense mutations, R999X and R598X (Table 3), also consistent with a diffuse disease. Login to comment 173 ABCC8 p.Arg74Trp Another novel mutation, R74W (Table 3), was identified in patient no. 18 which was inherited from the father. Login to comment 187 ABCC8 p.Arg74Trp base pair deletions, a novel splice site mutation, and the R74W mutation described in patient no. 18 above (Table 3) were identified in each of five other patients (no. 31, nos. 29 and 32, no. 23, and no. 30, respectively). Login to comment 207 ABCC8 p.Arg74Trp ABCC8 Exon 2 c220t 74 Arg to Trp -Bsp MI 18, 30 ABCC8 Exon 12 c1795t 598 Arg to stop codon -Sin I 19 ABCC8 Exon 13 1874del c 625 Frameshift None 32 ABCC8 Intron 15 2116 ϩ 1 g to t NA 5' splice site alteration None 23 ABCC8 Exon 16 c2151a 717 Cys to stop codon -Bbv I 31 ABCC8 Exon 25 c2995t 999 Arg to stop codon ϩHph I 19 ABCC8 Exon 29 3576 del g 1192 Frameshift None 29 KCNJ11 Exon 1 g401c 134 Gly to Ala None 17 KCNJ11 Exon 1 c797t 266 Pro to Leu None 17 -, base change abolishes a restriction enzyme site; ϩ, base change creates a restriction enzyme site; NA, not applicable. Login to comment 248 ABCC8 p.Arg74Trp A novel mutation described in this study, R74W, was present in one diffuse HI patient and one focal HI patient. Login to comment