| Deep intronic APC mutations explain a substantial proportion of patients with familial or early onset adenomatous polyposis. | |
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MedLine Citation:
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PMID: 22431159 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: JOURNAL ARTICLE Date: 2012-3-19 |
Journal Detail:
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Title: Human mutation Volume: - ISSN: 1098-1004 ISO Abbreviation: - Publication Date: 2012 Mar |
Date Detail:
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Created Date: 2012-3-20 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9215429 Medline TA: Hum Mutat Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2012 Wiley Periodicals, Inc. |
Affiliation:
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Institute of Human Genetics, University of Bonn, Germany. isabel.spier@uni-bonn.de. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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