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- Title
Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.
- Authors
Cheung, Hannah C; Yatsenko, Svetlana A; Kadapakkam, Meena; Legay, Hélène; Su, Jack; Lupski, James R; Plon, Sharon E
- Abstract
Point mutations of EHMT1 or deletions and duplications of chromosome 9q34.3 are found in patients with variable neurologic and developmental disorders. Here, we present a child with congenital cataract, developmental and speech delay who developed a metastatic ganglioglioma with progression to anaplastic astrocytoma. Molecular analysis identified a novel constitutional tandem duplication in 9q34.3 with breakpoints in intron 1 of TRAF2 and intron 16 of EHMT1 generating a fusion transcript predicted to encode a truncated form of EHMT1. The ganglioglioma showed complex chromosomal aberrations with further duplication of the dup9q34. Thus, this unique tandem 9q34.3 duplication may impact brain tumor formation.
- Publication
Pediatric blood & cancer, 2012, Vol 58, Issue 5, p801
- ISSN
1545-5017
- Publication type
Journal Article
- DOI
10.1002/pbc.23219