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

I.A. Hemming, Alistair Forrest, P. Shipman, K.J. Woodward, P. Walsh, D.G. Ravine, Julian Heng

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

© 2016 Wiley Periodicals, Inc. 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.
Original languageEnglish
Pages (from-to)458-467
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume171
Issue number3
DOIs
Publication statusPublished - 2016

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