title: 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.
authors.affiliation: Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Hannah C
authors.initials: HC
authors.lastname: Cheung
authors.forename: Svetlana A
authors.initials: SA
authors.lastname: Yatsenko
authors.forename: Meena
authors.initials: M
authors.lastname: Kadapakkam
authors.forename: Hélène
authors.initials: H
authors.lastname: Legay
authors.forename: Jack
authors.initials: J
authors.lastname: Su
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.forename: Sharon E
authors.initials: SE
authors.lastname: Plon
mesh_terms: D002675:Child, Preschool; D058674:Chromosome Duplication; D002899:Chromosomes, Human, Pair 9; D005260:Female; D018303:Ganglioglioma / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics*; D006801:Humans; D047992:TNF Receptor-Associated Factor 2 / Q000235:genetics
chemical_list: D047992:TNF Receptor-Associated Factor 2; C455847:EHMT1 protein, human; D011495:Histone-Lysine N-Methyltransferase