Abstract:
:Genomic disorders are a group of human genetic diseases caused by genomic rearrangements resulting in copy-number variation (CNV) affecting a dosage-sensitive gene or genes critical for normal development or maintenance. These disorders represent a wide range of clinically distinct entities but include many diseases affecting nervous system function. Herein, we review selected neurodevelopmental, neurodegenerative, and psychiatric disorders either known or suggested to be caused by genomic rearrangement and CNV. Further, we emphasize the cause-and-effect relationship between gene CNV and complex disease traits. We also discuss the prevalence and heritability of CNV, the correlation between CNV and higher-order genome architecture, and the heritability of personality, behavioral, and psychiatric traits. We speculate that CNV could underlie a significant proportion of normal human variation including differences in cognitive, behavioral, and psychological features.
journal_name
Neuronjournal_title
Neuronauthors
Lee JA,Lupski JRdoi
10.1016/j.neuron.2006.09.027subject
Has Abstractpub_date
2006-10-05 00:00:00pages
103-21issue
1eissn
0896-6273issn
1097-4199pii
S0896-6273(06)00734-3journal_volume
52pub_type
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