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Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.

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.

SUBMITTER: Cheung HC

PROVIDER: S-EPMC3202030 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature

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Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.

Cheung Hannah C HC Yatsenko Svetlana A SA Kadapakkam Meena M Legay Hélène H Su Jack J Lupski James R JR Plon Sharon E SE

Pediatric blood & cancer 20110616 5

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 predict ...[more]

PMID: 21681934

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