{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:41:24Z","timestamp":1791348084422,"version":"4.3.1"},"reference-count":50,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2011,12,28]],"date-time":"2011-12-28T00:00:00Z","timestamp":1325030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>Genomic duplications that lead to autism and other human diseases are interesting pathological lesions since the underlying mechanism almost certainly involves dosage sensitive genes. We aim to understand a novel genomic disorder with profound phenotypic consequences, most notably global developmental delay, autism, psychosis, and anorexia nervosa.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We evaluated the affected individuals, all maternally related, using childhood autism rating scale (CARS) and Vineland Adaptive scales, magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) brain, electroencephalography (EEG), electromyography (EMG), muscle biopsy, high\u2010resolution molecular karyotype arrays, Giemsa banding (G\u2010banding) and fluorescent in situ hybridization (FISH) experiments, mitochondrial DNA (mtDNA) sequencing, X\u2010chromosome inactivation study, global gene expression analysis on Epstein\u2010Barr virus (EBV)\u2010transformed lymphoblasts, and quantitative reverse\u2010transcription polymerase chain reaction (qRT\u2010PCR).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>We have identified a novel Xq12\u2013q13.3 duplication in an extended family. Clinically normal mothers were completely skewed in favor of the normal chromosome X. Global transcriptional profiling of affected individuals and controls revealed significant alterations of genes and pathways in a pattern consistent with previous microarray studies of autism spectrum disorder patients. Moreover, expression analysis revealed copy number\u2013dependent increased messenger RNA (mRNA) levels in affected patients compared to control individuals. A subset of differentially expressed genes was validated using qRT\u2010PCR.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation:<\/jats:title>\n                    <jats:p>\n                      Xq12\u2013q13.3 duplication is a novel global developmental delay and autism\u2010predisposing chromosomal aberration; pathogenesis of which may be mediated by increased dosage of genes contained in the duplication, including\n                      <jats:italic>NLGN3, OPHN1, AR, EFNB1, TAF1, GJB1,<\/jats:italic>\n                      and\n                      <jats:italic>MED12<\/jats:italic>\n                      . ANN NEUROL 2012\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.22673","type":"journal-article","created":{"date-parts":[[2011,11,25]],"date-time":"2011-11-25T12:08:11Z","timestamp":1322222891000},"page":"498-508","source":"Crossref","is-referenced-by-count":37,"title":["A novel X\u2010linked disorder with developmental delay and autistic 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