{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T04:55:21Z","timestamp":1791176121899,"version":"4.1.0"},"reference-count":51,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,8,16]],"date-time":"2011-08-16T00:00:00Z","timestamp":1313452800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recent studies suggest that copy number variations (CNVs) encompassing several genes involved in neurodevelopmental pathways are associated with a variety of neuropsychiatric phenotypes, including developmental delay (DD), mental retardation (MR), and autism spectrum disorders (ASDs). Here we present eight patients in a cohort of \u223c1,200 patients referred for clinical array CGH testing for various neurodevelopmental phenotypes, who were identified to carry small (&lt;1.0\u2009Mb with the majority &lt;500\u2009kb) either total gene or intragenic deletions encompassing critical synaptic and other neurodevelopmental genes. The presentations of these patients included variable degrees of DD, speech problems, learning disabilities, MR, autistic\u2010like features, and mild non\u2010specific dysmorphic features. These genes belong to four functional categories, including neuronal transcription factor genes (<jats:italic>NFIA<\/jats:italic> at 1p31.3, <jats:italic>MEF2C<\/jats:italic> at 5q14.3, and <jats:italic>CAMAT1<\/jats:italic> at 1p36.23p36.31), neuron\u2010specific splicing factor genes (<jats:italic>RBFOX1<\/jats:italic> at 16p13.2p13.3), genes involved in synapse formation and maintenance (<jats:italic>CNTNAP2<\/jats:italic> at 7q35 and <jats:italic>LRFN5<\/jats:italic> at 14q21.2), and genes involved in neurotransmission (<jats:italic>CHRNA7<\/jats:italic> at 15q13.3 and <jats:italic>IL1RAPL1<\/jats:italic> at Xp21.2p21.3). Our report expands the list of neurodevelopmental genes deleted in various neurobehavioral phenotypes, expands the phenotypes caused by haploinsufficiency of previously reported critical neurodevelopmental genes, and elucidates the clinical relevance and need for careful clinical interpretation of some small CNVs &lt;500\u2009kb. This report also suggests that small clinically relevant deletions encompassing critical synaptic and other neurodevelopmental genes can present clinically with various neurobehavioral phenotypes, which implies the existence of overlapping neuronal pathways in the pathogenesis of these phenotypes. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34177","type":"journal-article","created":{"date-parts":[[2011,8,16]],"date-time":"2011-08-16T16:10:06Z","timestamp":1313511006000},"page":"2386-2396","source":"Crossref","is-referenced-by-count":173,"title":["Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and\/or autism spectrum disorders"],"prefix":"10.1002","volume":"155","author":[{"given":"Fady M.","family":"Mikhail","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward J.","family":"Lose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathaniel H.","family":"Robin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria D.","family":"Descartes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine D.","family":"Rutledge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. Lane","family":"Rutledge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce R.","family":"Korf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew 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