PMID: 21981029

Rubio-Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S
KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life.
Pediatr Diabetes. 2012 Jun;13(4):322-5. doi: 10.1111/j.1399-5448.2011.00824.x. Epub 2011 Oct 10., [PubMed]
Sentences
No. Mutations Sentence Comment
46 ABCC8 p.Val607Met
X
ABCC8 p.Val607Met 21981029:46:122
status: NEW
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ABCC8 p.Val215Ile
X
ABCC8 p.Val215Ile 21981029:46:101
status: NEW
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 A third Caucasian female patient was found to be a compound heterozygote for two mutations in ABCC8; V215I (c.643G>A) and V607M (c.1819G>A). Login to comment 54 ABCC8 p.His401Tyr
X
ABCC8 p.His401Tyr 21981029:54:146
status: NEW
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 In addition, three novel heterozygous ABCC8 missense variants of uncertain significance were identified in three patients with isolated diabetes; H401Y (c.1201C>T) in a male diagnosed at 8 months, F169V(c.505T>G)in a female diagnosed at10 months, and H817R (c.2450A>G) in a female who presented at 12 months. Login to comment 55 ABCC8 p.His401Tyr
X
ABCC8 p.His401Tyr 21981029:55:4
status: NEW
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ABCC8 p.Phe169Val
X
ABCC8 p.Phe169Val 21981029:55:14
status: NEW
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 The H401Y and F169V variants were inherited from an unaffected parent (mother and father, respectively) and are therefore unlikely to be causative. Login to comment