ABCMdb

PMID: 21422196

Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
Eur J Endocrinol. 2011 Jun;164(6):919-26. Epub 2011 Mar 21., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC8 p.Glu100* ABCC8 p.Trp430* Of these, nine ABCC8 mutations (E100X, W430X, c.1630C1GOC, D813N, Q923X, E1087_A1094delinsDKSDT, Q1134H, H1135W, and E1209Rfs) and one KCNJ11 mutation (W91X) were novel. Login to comment 28 ABCC8 p.Val187Asp Founder mutations are reported in certain populations, such as certain ABCC8 gene mutations (c.3992-9GOA and F1388del) in Ashkenazi Jews and V187D and E1507K mutations among the Finnish population. Login to comment 61 ABCC8 p.Glu100* ABCC8 p.Trp430* Sex GA (weeks) /BWt (g) Onset age Diazoxide response Octreotide response Age at op/ histology After op Age at remission or starting insulin Paternal chromosome Maternal chromosome ABCC8 1 M 36 C3 /5000 1 d ND K 1.5 m/diffuse Octreotide Remission 44.9 m Q923X a R837X 2 M 40/3500 b 6 m ND K 6.7 m/diffuse Euglycemia Remission 6.7 m W430X H1135W c 3 F 36 C5 /4610 Birth ND K 1.5 m/diffuse Euglycemia Diabetes 54.7 m K S1387F 4 M 38/3650 3 d C K 13.5 m/diffuse Diazoxide Diazoxide D813N 5 F 40 C4 /3680 b 3 d K K 22.0 m/diffuse Euglycemia Remission 22.0 m K Q1134H 6 M 38 C3 /3800 3 d C ND K K Remission 12.2 m ND H1135W d 7 M 38 C3/ 4320 Birth K C K K Octreotide E1087-A1094 delinsDKSDT d c.1630C1GOC d 8 F 36 C6 /4500 1 d C ND K K Diazoxide E100X K 9 M 41 C2 /4000 2 d K C K K Remission 28.0 m K E1209Rfs c 10 M 36/3600 4 m C ND K K Diazoxide K R1539Q 11 F 37/3789 1 d K C K K Remission 70.7 m R837X K KCNJ11 12 M 40/4700 6 m K C K K Remission 20.6 m W91X K 13 M 40/4000 4 m K C K K Remission 27.1 m A187V K 14 M 38 C3 /4900 1 d K C K K Remission 35.4 m A187V R136C No mutation 15 M 40/4000 4 m C ND K Diazoxide None None 16 M 39/3600 2 m K C K K Remission 20.2 m None None 17 M 40/3710 b 7 m ND e ND e 14.9 m/diffuse Euglycemia Diabetes 125.3 m None None GA, gestational age; BWt, birth weight; ND, not determined; Op, 95% subtotal pancreatectomy. Login to comment 84 ABCC8 p.Glu100* ABCC8 p.Trp430* We identified five different missense mutations, four nonsense mutations, two frameshift mutations, and one aberrant splicing mutation. Among these, nine mutations (E100X, W430X, c.1630C1GOC, D813N, Q923X, E1087_A1094delinsDKSDT, Q1134H, H1135W, and E1209Rfs) were novel. Login to comment 86 ABCC8 p.Glu100* ABCC8 p.Trp430* We identified five different missense mutations, four nonsense mutations, two frameshift mutations, and one aberrant splicing mutation. Among these, nine mutations (E100X, W430X, c.1630C1GOC, D813N, Q923X, E1087_A1094delinsDKSDT, Q1134H, H1135W, and E1209Rfs) were novel. Login to comment 92 ABCC8 p.Glu100* ABCC8 p.Trp430* Frequency (%) CHI chromosomes (nZ34) Reference ABCC8 (nZ12) Exon 3 c.298GOT E100X - 8 3 NR Exon 8 c.1289GOA W430X - 2 3 NR Intron 10 c.1630C1GOC Aberrant splicing - 7 3 NR Exon 20 c.2437GOA D813N NBD1 4 3 NR Exon 21 c.2509COT R837X - 1, 11 6 (24-26) Exon 23 c.2767COT Q923X - 1 3 NR Exon 26 E1087-A1094delins DKSDT 7 3 NR Exon 27 c.3402GOT Q1134H CL7 5 3 NR Exon 28 c.3403COT H1135W CL7 2, 6 6 NR Exon 29 c.3627_3628insCGTA E1209Rfs - 9 3 NR Exon 34 c.4160COT S1387F NBD2 3 3 (22, 23) Exon 39 c.4616GOA R1539Q NBD2 10 3 (23) KCNJ11 (nZ3) Exon 1 c.273 GOA W91X - 12 3 NR Exon 1 c.406COT R136C - 14 3 (28) Exon 1 c.560COT A187V - 13, 14 6 (29) NBD, nucleotide binding domain; CL, cytoplasmic loop; NR, not reported. Login to comment 94 ABCC8 p.Glu100* ABCC8 p.Trp430* Frequency (%) CHI chromosomes (nZ34) Reference ABCC8 (nZ12) Exon 3 c.298GOT E100X - 8 3 NR Exon 8 c.1289GOA W430X - 2 3 NR Intron 10 c.1630C1GOC Aberrant splicing - 7 3 NR Exon 20 c.2437GOA D813N NBD1 4 3 NR Exon 21 c.2509COT R837X - 1, 11 6 (24-26) Exon 23 c.2767COT Q923X - 1 3 NR Exon 26 E1087-A1094delins DKSDT 7 3 NR Exon 27 c.3402GOT Q1134H CL7 5 3 NR Exon 28 c.3403COT H1135W CL7 2, 6 6 NR Exon 29 c.3627_3628insCGTA E1209Rfs - 9 3 NR Exon 34 c.4160COT S1387F NBD2 3 3 (22, 23) Exon 39 c.4616GOA R1539Q NBD2 10 3 (23) KCNJ11 (nZ3) Exon 1 c.273 GOA W91X - 12 3 NR Exon 1 c.406COT R136C - 14 3 (28) Exon 1 c.560COT A187V - 13, 14 6 (29) NBD, nucleotide binding domain; CL, cytoplasmic loop; NR, not reported. Login to comment