Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism

in European Journal of Endocrinology
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  • 1 Department of Pediatrics, College of Medicine, CHA Gangnam Medical Center, CHA University, 650-9 Yeoksam 1-dong, Gangnam-gu, Seoul, 135-914, Republic of Korea
  • | 2 Peninsula Medical School, Institute of Biomedical and Clinical Science, University of Exeter, Exeter, EX2 5DW, UK
  • | 3 Developmental Endocrinology Research Group, Molecular Genetics Unit, The Institute of Child Health, London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust University College London, London, WC1N 1EH, UK
  • | 4 Department of Pediatrics, Seoul National University Children's Hospital, 28 Yeongeondong, Jongnogu, Seoul, 110-744, Republic of Korea
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The authors and the journal apologise for an error in Tables 1 and 2 of this article published in the June 2011 issue, vol 164, pages 919–926. In Table 1, the novel mutation would be c.3403C>T/H1135Y. As codon H1135 is CAC, a nucleotide change of c.3403C>T would change H1135 to Y (TAC) and not as published.

Table 1

Clinical characteristics and ABCC8 and KCNJ11 gene mutations in 17 Korean patients with congenital hyperinsulinism.

Mutation
Patient no.SexGA (weeks)/BWt (g)Onset agePaternal chromosomeMaternal chromosome
ABCC8
 1M36+3/50001 dQ923XaR837X
 2M40/3500b6 mW430XH1135Yc
 3F36+5/4610BirthS1387F
 4M38/36503 dD813N
 5F40+4/3680b3 dQ1134H
 6M38+3/38003 dNDH1135Wd
 7M38+3/4320BirthE1087-A1094delinsDKSDTdc.1630+1G>Cd
 8F36+6/45001 dE100X
 9M41+2/40002 dE1209Rfsc
 10M36/36004 mR1539Q
 11F37/37891 dR837X
KCNJ11
 12M40/47006 mW91X
 13M40/40004 mA187V
 14M38+3/49001 dA187VR136C
No mutation
 15M40/40004 mNoneNone
 16M39/36002 mNoneNone
 17M40/3710b7 mNoneNone

GA, gestational age; BWt, birth weight; ND, not determined; Op, 95% subtotal pancreatectomy.

De novo mutation, probably on the paternal chromosome.

Birth weight is <90th percentile.

De novo heterozygous mutation.

Heterozygous mutation; distribution on parental chromosomes is not known.

Table 2

ABCC8 and KCNJ11 gene mutations identified in 14 Korean patients with CHI.

LocationNucleotide substitutionAmino acid substitutionDomainPatient no.Frequency (%) CHI chromosomes (n=34)Reference
ABCC8 (n=12)
 Exon 3c.298G>TE100X83NR
 Exon 8c.1289G>AW430X23NR
 Intron 10c.1630+1G>CAberrant splicing73NR
 Exon 20c.2437G>AD813NNBD143NR
 Exon 21c.2509C>TR837X1, 116(24–26)
 Exon 23c.2767C>TQ923X13NR
 Exon 26E1087-A1094delinsDKSDT73NR
 Exon 27c.3402G>TQ1134HCL753NR
 Exon 28c.3403C>TH1135YCL72, 66NR
 Exon 29c.3627_3628insCGTAE1209Rfs93NR
 Exon 34c.4160C>TS1387FNBD233(22, 23)
 Exon 39c.4616G>AR1539QNBD2103(23)
KCNJ11 (n=3)
 Exon 1c.273 G>AW91X123NR
 Exon 1c.406C>TR136C143(28)
 Exon 1c.560C>TA187V13, 146(29)

NBD, nucleotide binding domain; CL, cytoplasmic loop; NR, not reported.

In Table 2 the amino acid substitution in Exon 28 should read as H1135Y. The correct tables are published below:

 

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