{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T16:22:22Z","timestamp":1789921342715,"version":"4.0.1"},"reference-count":62,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2021,3,26]],"date-time":"2021-03-26T00:00:00Z","timestamp":1616716800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["FRN159619"],"award-info":[{"award-number":["FRN159619"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,5,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The PHF6 mutation c.1024C\u2009&amp;gt;\u2009T; p.R342X, is a recurrent cause of B\u00f6rjeson\u2013Forssman\u2013Lehmann Syndrome (BFLS), a neurodevelopmental disorder characterized by moderate\u2013severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, long tapering fingers and large ears (MIM#301900). Here, we generated transgenic mice with the identical substitution (R342X mice) using CRISPR technology. We show that the p.R342X mutation causes a reduction in PHF6 protein levels, in both human and mice, from nonsense-mediated decay and nonsense-associated alternative splicing, respectively. Magnetic resonance imaging studies indicated that R342X mice had a reduced brain volume on a mixed genetic background but developed hydrocephaly and a high incidence of postnatal death on a C57BL\/6 background. Cortical development proceeded normally, while hippocampus and hypothalamus relative brain volumes were altered. A hypoplastic anterior pituitary was also observed that likely contributes to the small size of the R342X mice. Behavior testing demonstrated deficits in associative learning, spatial memory and an anxiolytic phenotype. Taken together, the R342X mice represent a good preclinical model of BFLS that will allow further dissection of PHF6 function and disease pathogenesis.<\/jats:p>","DOI":"10.1093\/hmg\/ddab081","type":"journal-article","created":{"date-parts":[[2021,3,17]],"date-time":"2021-03-17T20:10:33Z","timestamp":1616011833000},"page":"575-594","source":"Crossref","is-referenced-by-count":11,"title":["Transgenic mice with an R342X mutation in <i>Phf6<\/i> display clinical features of B\u00f6rjeson\u2013Forssman\u2013Lehmann Syndrome"],"prefix":"10.1093","volume":"30","author":[{"given":"Raies","family":"Ahmed","sequence":"first","affiliation":[{"name":"Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario K1H 8L6, Canada"},{"name":"Departments of Biochemistry, Microbiology, & Immunology, Ottawa, Ontario K1H 8M5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shihab","family":"Sarwar","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario K1H 8L6, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinghua","family":"Hu","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario K1H 8L6, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cardin","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario K1H 8L6, Canada"},{"name":"Cellular & Molecular Medicine, Ottawa, Ontario K1H 8M5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lily R","family":"Qiu","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre, The Hospital for Sick Children, Toronto, Ontario M5T 3H7, Canada"},{"name":"Wellcome Centre for Integrative Neuroimaging, FMRIB, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerardo","family":"Zapata","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario K1H 8L6, Canada"},{"name":"Departments of Biochemistry, Microbiology, & Immunology, Ottawa, Ontario K1H 8M5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucianne","family":"Vandeleur","sequence":"additional","affiliation":[{"name":"Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keqin","family":"Yan","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario K1H 8L6, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason P","family":"Lerch","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre, The Hospital for Sick Children, Toronto, Ontario M5T 3H7, Canada"},{"name":"Wellcome Centre for Integrative Neuroimaging, FMRIB, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK"},{"name":"Department of Medical Biophysics, University of Toronto, Toronto, Ontario M5G 1L7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark A","family":"Corbett","sequence":"additional","affiliation":[{"name":"Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[{"name":"Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia"},{"name":"South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Picketts","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario K1H 8L6, Canada"},{"name":"Departments of Biochemistry, Microbiology, & Immunology, Ottawa, Ontario K1H 8M5, Canada"},{"name":"Cellular & Molecular Medicine, Ottawa, Ontario K1H 8M5, Canada"},{"name":"Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,3,26]]},"reference":[{"key":"2021070819092752200_ref1","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1038\/ng1040","article-title":"Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome","volume":"32","author":"Lower","year":"2002","journal-title":"Nat. Genet."},{"key":"2021070819092752200_ref2","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/j.0954-6820.1962.tb04162.x","article-title":"An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder","volume":"171","author":"Borjeson","year":"1962","journal-title":"Acta Med. Scand."},{"key":"2021070819092752200_ref3","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1002\/ajmg.1320340402","article-title":"Borjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27","volume":"34","author":"Turner","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"2021070819092752200_ref4","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1111\/j.0009-9163.2004.00215.x","article-title":"The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations","volume":"65","author":"Turner","year":"2004","journal-title":"Clin. Genet."},{"key":"2021070819092752200_ref5","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.jpeds.2004.07.041","article-title":"Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6","volume":"145","author":"Visootsak","year":"2004","journal-title":"J. Pediatr."},{"key":"2021070819092752200_ref6","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1136\/jmg.2005.033084","article-title":"Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient","volume":"43","author":"Crawford","year":"2006","journal-title":"J. Med. Genet."},{"key":"2021070819092752200_ref7","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1002\/ajmg.a.32624","article-title":"Further clinical delineation of the Borjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations","volume":"149A","author":"Carter","year":"2009","journal-title":"Am. J. Med. Genet. 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