PMID: 23345197

Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Eur J Endocrinol. 2013 Mar 15;168(4):557-64. doi: 10.1530/EJE-12-0673. Print 2013 Apr., [PubMed]
Sentences
No. Mutations Sentence Comment
77 ABCC8 p.Gly111Arg
X
ABCC8 p.Gly111Arg 23345197:77:96
status: NEW
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 The most common mutations were the splice site mutation c.3992-9GOA and the missense mutation p.G111R, found in six patients each. Login to comment 94 ABCC8 p.Ala1263Thr
X
ABCC8 p.Ala1263Thr 23345197:94:83
status: NEW
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 Two of these (patients 97 and 270) are heterozygous for the same novel mutation (p.A1263T). Login to comment 167 ABCC8 p.Gly111Arg
X
ABCC8 p.Gly111Arg 23345197:167:45
status: NEW
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 This series identified a missense mutation p.G111R in six unrelated patients with severe, diazoxide-unresponsive disease, of Indian background. Login to comment 168 ABCC8 p.Val187Asp
X
ABCC8 p.Val187Asp 23345197:168:123
status: NEW
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 Two ABCC8 mutations, c.3992-9GOA and p.F1388del, are associated with CHI in the Ashkenazi Jewish population (11) and the p.V187D mutation has been associated with the Finnish population (46). Login to comment 169 ABCC8 p.Gly111Arg
X
ABCC8 p.Gly111Arg 23345197:169:25
status: NEW
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 The recognition of the p.G111R mutation exclusively in patients from an Indian ethnic background suggests a founder effect. Login to comment