ABCMdb

PMID: 19254908

James C, Kapoor RR, Ismail D, Hussain K
The genetic basis of congenital hyperinsulinism.
J Med Genet. 2009 May;46(5):289-99. Epub 2009 Mar 1., [PubMed]

Sentences

No. Mutations Sentence Comment

38 ABCC8 p.Val187Asp Review J Med Genet 2009;46:289-299. doi:10.1136/jmg.2008.064337 Homozygous, compound heterozygous and heterozygous recessive inactivating mutations (missense, frameshift, nonsense, insertions/deletions (macrodeletion), splice site and regulatory mutations) have been reported in ABCC8 and KCNJ11.10-17 67 68 So far, more than 150 mutations have been reported in ABCC8 and 25 in KCNJ11.69 In the Ashkenazi Jewish population two common mutations (F1388del and c.3992-9G4A) account for 90% of all cases of CHI9 10 whereas in the Finnish population, two founder mutations have been reported (V187D and E1507 K).14 22 Recessive inactivating mutations in ABCC8 and KCNJ11 usually cause severe CHI which in the vast majority of patients is unresponsive to medical treatment with diazoxide. Login to comment 53 ABCC8 p.Arg1420Cys Several mutations in ABCC8 (for example, R1420C, T1139M and R1215Q) have now been described that result in the loss of ADP dependent gating properties of the channel.75 77 78 Loss of ADP dependent gating results in the constitutive inhibition of KATP channels by ATP. Login to comment