Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma†‡
Conflict of interest: James R. Lupski is a consultant for Athena Diagnostics and is based in the Department Fi of Molecular and Human Genetics at Baylor College of Medicine (BCM), which offers extensive genetic testing, including use of arrays for genomic copy number analysis, and derives revenue from this activity.
H. C. Cheung and S. A. Yatsenko contributed equally to this work.
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. Pediatr Blood Cancer 2012; 58: 801–805. © 2011 Wiley Periodicals, Inc.
