NDLI: Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.

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Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Waaijer, Cathelijn J. F. Winter, Marcel G. T. Reijnders, Christianne M. A. de Jong, Daniëlle John Ham, S. Bovée, Judith V. M. G. Szuhai, Károly
Description	Country affiliation: Netherlands Author Affiliation: Waaijer CJ ( Department of Pathology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.)
Abstract	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.
File Format	HTM / HTML
ISSN	10452257
Issue Number	4
Volume Number	52
e-ISSN	10982264
Journal	Genes, Chromosomes and Cancer
Language	English
Publisher	Wiley-Liss
Publisher Date	2013-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Molecular Biology Discipline Oncology Exostoses, Multiple Hereditary Genetics Gene Deletion Gene Duplication Introns Base Sequence Dna Mutational Analysis Pathology Family Health Female Genetic Predisposition To Disease Humans Male N-acetylglucosaminyltransferases Pedigree Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research

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Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.