| Intronic deletion and duplication proximal of the EXT1 gene: A novel causative mechanism for multiple osteochondromas. | |
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MedLine Citation:
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PMID: 23341036 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Multiple osteochondromas (MO) is a syndrome in which benign cartilage-capped neoplasms develop at the surface of the long bones. Most cases are caused by exonic changes in EXT1 or EXT2, but 15% are negative for these changes. Here we report for the first time a family of MO patients with germline genomic alterations at the EXT1 locus without detectable mutations or copy number alterations of EXT exonic sequences. Array-CGH showed an 80.7 kb deletion of Intron 1 of EXT1 and a 68.9 kb duplication proximal of EXT1. We identified a breakpoint between the distal end of the duplicated region and a sequence distal of the deleted region in the first intron. This breakpoint was absent in non-affected family members. The configuration of the breakpoint indicates a direct insertion of the duplicated region into the deletion. However, no other breakpoint was found, which suggests a more complex genomic rearrangement has occurred within the duplicated region. Our results reveal intronic deletion and duplication as a new causative mechanism for MO not detected by conventional diagnostic methods. © 2013 Wiley Periodicals, Inc. |
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Authors:
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Cathelijn J F Waaijer; Marcel G T Winter; Christianne M A Reijnders; Daniëlle de Jong; S John Ham; Judith V M G Bovée; Károly Szuhai |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-23 |
Journal Detail:
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Title: Genes, chromosomes & cancer Volume: - ISSN: 1098-2264 ISO Abbreviation: Genes Chromosomes Cancer Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-23 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9007329 Medline TA: Genes Chromosomes Cancer Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2013 Wiley Periodicals, Inc. |
Affiliation:
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Department of Pathology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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