PMID: 21185999

Saint-Martin C, Arnoux JB, de Lonlay P, Bellanne-Chantelot C
KATP channel mutations in congenital hyperinsulinism.
Semin Pediatr Surg. 2011 Feb;20(1):18-22. doi: 10.1053/j.sempedsurg.2010.10.012., [PubMed]
Sentences
No. Mutations Sentence Comment
73 ABCC8 p.Val187Asp
X
ABCC8 p.Val187Asp 21185999:73:354
status: NEW
view ABCC8 p.Val187Asp details
 Missense, frameshift, nonsense, insertions/deletions, splice-site mutations, and rare exonic deletions have been reported in CHI.7,15 No "hot spots" for mutations are present; most mutations are unique to the respective family except for 2 mutations common (F1388del and c.3992-9G b0e; A) in the Ashkenazi Jewish population18 and 2 founder mutations (V187D and E1507K) in the Finnish population.19,20 The frequency of KATP mutations identified is different according to the histopathological form and the responsiveness of CHI patients to diazoxide. Login to comment