PMID: 21378087

Banerjee I, Skae M, Flanagan SE, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove KE, Dunne MJ, Clayton PE
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.
Eur J Endocrinol. 2011 May;164(5):733-40. Epub 2011 Mar 4., [PubMed]
Sentences
No. Mutations Sentence Comment
63 ABCC8 p.Gly70Arg
X
ABCC8 p.Gly70Arg 21378087:63:274
status: NEW
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ABCC8 p.Ala4Val
X
ABCC8 p.Ala4Val 21378087:63:197
status: NEW
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ABCC8 p.Arg521Pro
X
ABCC8 p.Arg521Pro 21378087:63:495
status: NEW
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ABCC8 p.His36Arg
X
ABCC8 p.His36Arg 21378087:63:115
status: NEW
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 Patient Gene Mutation (nucleotide) Mutation (protein) Inheritance Response to diazoxide #1 ABCC8 Exon 1 c.107AOG p.His36Arg Compound heterozygote: maternal and paternal U #2 ABCC8 Exon 1 c.11COT p.Ala4Val Presumed paternal compound heterozygote U #3 ABCC8 Exon 2 c.208GOA p.Gly70Arg Compound heterozygote: maternal and paternal U #4 ABCC8 Exon 37 c.4547COT p.Thr1516Met Heterozygous maternal R #5 ABCC8 Exon 34 c.4169TOG p.Leu1390Arg De novo R #6 ABCC8 Exon 10 Exon 33 c.1562GOC and c.4079COT p.Arg521Pro p.Pro1360Leu Compound heterozygote: maternal and paternal U #7 ABCC8 Exon 21 c.2525GOA p.Arg842Gln Paternal heterozygote U #8 ABCC8 Intron 9 c.1467C5GOA p.? Login to comment 68 ABCC8 p.Ala726Thr
X
ABCC8 p.Ala726Thr 21378087:68:86
status: NEW
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 In total, three novel heterozygous ABCC8 variants of uncertain clinical significance, A726T (c.2176GOA), A978T (c.2932GOA) and c.3870C7GOA, were each identified in a single proband and the previously reported ABCC8 variant, c.-8GOT, was identified in two unrelated cases (17). Login to comment