title: Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature.
abstract: Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43-q44 deletion with an adjacent duplication, associated with severe seizures, microcephaly, agenesis of the corpus callosum, and pachygyria, a consequence of defective neuronal migration disorder. We conducted a literature survey to find that our patient is only the second case of such a 1q43-q44 CNV ever to be described. Our data support an association between 1q43-q44 deletions and microcephaly, as well as an association between 1q43-q44 duplications and macrocephaly. We compare and contrast our findings with previous studies reporting on critical 1q43-q44 regions and their constituent genes associated with seizures, microcephaly, and corpus callosum abnormalities [Ballif et al., 2012; Hum Genet 131:145-156; Nagamani et al., 2012; Eur J Hum Genet 20:176-179]. Taken together, our study reinforces the association between 1q43-q44 CNVs and brain disorder.
authors: The Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
authors: Isabel A
authors: IA
authors: Hemming
authors: The Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.|Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.
authors: Alistair R R
authors: AR
authors: Forrest
authors: Department of Diagnostic Imaging, Princess Margaret Hospital, Subiaco, Western Australia, Australia.
authors: Peter
authors: P
authors: Shipman
authors: PathWest, Laboratory Medicine WA, Nedlands, Western Australia, Australia.
authors: Karen J
authors: KJ
authors: Woodward
authors: Department of Neurology, Princess Margaret Hospital, Subiaco, Western Australia, Australia.
authors: Peter
authors: P
authors: Walsh
authors: PathWest, Laboratory Medicine WA, Nedlands, Western Australia, Australia.
authors: David G
authors: DG
authors: Ravine
authors: The Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.|Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.
authors: Julian Ik-Tsen
authors: JI
authors: Heng
mesh_terms: D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003337:Corpus Callosum / Q000473:pathology; D056915:DNA Copy Number Variations / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008831:Microcephaly / Q000235:genetics; D012640:Seizures / Q000235:genetics; D017384:Sequence Deletion
keywords: AKT3; FAM36A/COX20; HNRNPU; ZNF238; brain disorder