Document Detail

Deep intronic APC mutations explain a substantial proportion of patients with familial or early onset adenomatous polyposis.
MedLine Citation:
PMID:  22431159     Owner:  NLM     Status:  Publisher    
To uncover pathogenic deep intronic variants in patients with colorectal adenomatous polyposis, in whom no germline mutation in the APC or MUTYH genes can be identified by routine diagnostics, we performed a systematic APC mRNA analysis in 125 unrelated mutation negative cases. Overall, we identified aberrant transcripts in 8% of the patients (familial cases 30%; early onset manifestation 21%). In eight of them two different out-of-frame pseudoexons were found consisting of a 167 bp insertion from intron 4 in five families with a shared founder haplotype and a 83 bp insertion from intron 10 in three patients. The pseudoexon formation was caused by three different heterozygous germline mutations, which are supposed to activate cryptic splice sites. In conclusion, a few deep intronic mutations contribute substantially to the APC mutation spectrum. cDNA analysis and/or target sequencing of intronic regions should be considered as an additional mutation discovery approach in polyposis patients.
Isabel Spier; Sukanya Horpaopan; Stefanie Vogt; Siegfried Uhlhaas; Monika Morak; Dietlinde Stienen; Markus Draaken; Michael Ludwig; Elke Holinski-Feder; Markus M Nöthen; Per Hoffmann; Stefan Aretz
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-3-19
Journal Detail:
Title:  Human mutation     Volume:  -     ISSN:  1098-1004     ISO Abbreviation:  -     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-3-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 Wiley Periodicals, Inc.
Institute of Human Genetics, University of Bonn, Germany.
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