{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:21:31Z","timestamp":1792203691457,"version":"4.4.0"},"reference-count":9,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,7,8]],"date-time":"2019-07-08T00:00:00Z","timestamp":1562544000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>MBOAT7<\/jats:italic> gene pathogenic variants are a newly discovered and rare cause for intellectual disability, autism spectrum disorder (ASD), seizures, truncal hypotonia, appendicular hypertonia, and below average head sizes (ranging from \u22121 to \u22123 standard deviations). There have been only 16 individuals previously reported who have <jats:italic>MBOAT7<\/jats:italic>\u2010related intellectual disability, all of whom were younger than 10\u2009years old and from consanguineous relationships. Thus, there is a lack of phenotypic information for adolescent and adult individuals with this disorder. Medical genetics and psychiatric evaluations in a 14\u2010year\u2010old female patient with a history of global developmental delay, intellectual disability, overgrowth with macrocephaly, metrorrhagia, seizures, basal ganglia hyperintensities, nystagmus, strabismus with amblyopia, ASD, anxiety, attention deficit hyperactivity disorder (ADHD), aggressive outbursts, and hyperphagia included a karyotype, methylation polymerase chain reaction for Prader\u2010Willi\/Angelman syndrome, chromosome microarray, and whole exome sequencing (WES), ADOS2, and ADI\u2010R. WES identified a homozygous, likely pathogenic variant in the <jats:italic>MBOAT7<\/jats:italic> gene (c.855\u20102A&gt;G). This is the oldest known patient with <jats:italic>MBOAT7<\/jats:italic>\u2010related intellectual disability, whose unique features compared with previously described individuals include overgrowth with macrocephaly, metrorrhagia, ophthalmological abnormalities, basal ganglia hyperintensities, unspecified anxiety disorder, and ADHD; combined type; and hyperphagia with the absence of appendicular hypertonia and cortical atrophy. More individuals need to be identified in order to delineate the full clinical spectrum of this disorder.<\/jats:p>","DOI":"10.1002\/ajmg.b.32749","type":"journal-article","created":{"date-parts":[[2019,7,8]],"date-time":"2019-07-08T09:28:48Z","timestamp":1562578128000},"page":"483-487","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Expanding the phenotypic spectrum of MBOAT7\u2010related intellectual disability"],"prefix":"10.1002","volume":"180","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0725-2871","authenticated-orcid":false,"given":"Joseph E.","family":"Jacher","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism and Genomic Medicine University of Michigan  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikita","family":"Roy","sequence":"additional","affiliation":[{"name":"Psychiatry University of Michigan  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Ghaziuddin","sequence":"additional","affiliation":[{"name":"Psychiatry University of Michigan  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey W.","family":"Innis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism and Genomic Medicine University of Michigan  Ann Arbor Michigan"},{"name":"Human Genetics University of Michigan  Ann Arbor Michigan"},{"name":"Internal Medicine University of Michigan  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0058425"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-018-0053-8"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/1469-7610.00626"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2788.2003.00464.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.07.019"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e12-09-0673"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2011.10.007"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21062"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.32749","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.32749","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.b.32749","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.32749","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T05:25:37Z","timestamp":1694323537000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.32749"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,8]]},"references-count":9,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,10]]}},"alternative-id":["10.1002\/ajmg.b.32749"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.32749","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,8]]},"assertion":[{"value":"2018-11-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}