{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:03:10Z","timestamp":1790427790787,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,8,4]],"date-time":"2018-08-04T00:00:00Z","timestamp":1533340800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Dongguan Social development project","award":["2013108101021"],"award-info":[{"award-number":["2013108101021"]}]},{"name":"Dongguan Social development project","award":["20161081101023"],"award-info":[{"award-number":["20161081101023"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:p>Members of the neurexin gene family, neurexin 1 (<jats:italic>NRXN1<\/jats:italic>), neurexin 2 (<jats:italic>NRXN2<\/jats:italic>), and neurexin 3 (<jats:italic>NRXN3<\/jats:italic>) encode important components of synaptic function implicated in autism and other neurodevelopmental\/neuropsychiatric disorders. Loss of function variants have been reported predominantly in <jats:italic>NRXN1<\/jats:italic>, with fewer such variants detected in <jats:italic>NRXN2<\/jats:italic> and <jats:italic>NRXN3<\/jats:italic>. Evidence for segregating <jats:italic>NRNX3<\/jats:italic> variants has particularly been lacking. Here, we report identification by chromosomal microarray analysis of a rare exonic deletion affecting the <jats:italic>NRXN3<\/jats:italic> alpha isoform in a three\u2010generation Chinese family. The proband, a 7\u2010year\u2010old boy, presented with motor and language delay and met the clinical diagnostic criteria for autism. He also presented with moderate intellectual disability, attention\u2010deficit hyperactivity disorder and facial dysmorphic features. The mother and maternal grandfather, both deletion carriers, presented with variable degrees of language and communication difficulties, as well as neuropsychiatric problems such as schizophrenia and temper tantrums. A compilation of sporadic cases with deletions involving part or all of <jats:italic>NRXN3<\/jats:italic> revealed that 9 of 23 individuals (39%) displayed features of autism. The evidence for cosegregation in our family further supports a role for <jats:italic>NRXN3<\/jats:italic> in autism and neurodevelopmental\/neuropsychiatric disorders but demonstrates intrafamily variable expressivity due to this <jats:italic>NRXN3<\/jats:italic> deletion, with schizophrenia and facial dysmorphism being potential novel features of <jats:italic>NRXN3<\/jats:italic> haploinsufficiency.<\/jats:p>","DOI":"10.1002\/ajmg.b.32673","type":"journal-article","created":{"date-parts":[[2018,8,7]],"date-time":"2018-08-07T06:39:59Z","timestamp":1533623999000},"page":"589-595","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["A rare exonic <i>NRXN3<\/i> deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three\u2010generation Chinese family"],"prefix":"10.1002","volume":"177","author":[{"given":"Haiming","family":"Yuan","sequence":"first","affiliation":[{"name":"Dongguan Maternal and Child Health Care Hospital  Dongguan People's Republic of China"},{"name":"Dongguan Institute of Reproductive and Genetic Research  Dongguan People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingming","family":"Wang","sequence":"additional","affiliation":[{"name":"Dongguan Maternal and Child Health Care Hospital  Dongguan People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanhui","family":"Liu","sequence":"additional","affiliation":[{"name":"Dongguan Maternal and Child Health Care Hospital  Dongguan People's Republic of China"},{"name":"Dongguan Institute of Reproductive and Genetic Research  Dongguan People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Yang","sequence":"additional","affiliation":[{"name":"Dongguan Maternal and Child Health Care Hospital  Dongguan People's Republic of 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Health Hospital of Guangxi Zhuang Autonomous Region  Nanning People's Republic of China"},{"name":"Division of Genetics and Genomics, Boston Children's Hospital, Department of Neurology Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,8,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1985"},{"key":"e_1_2_9_3_1","first-page":"157","article-title":"Fragile X disease","volume":"92","author":"Biancalana V.","year":"2004","journal-title":"Methods in Molecular 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