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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    
Abstract/OtherAbstract:
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.
Authors:
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.
Affiliation:
Institute of Human Genetics, University of Bonn, Germany. isabel.spier@uni-bonn.de.
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