{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T06:10:54Z","timestamp":1783491054289,"version":"3.55.0"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T00:00:00Z","timestamp":1589241600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T00:00:00Z","timestamp":1589241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology , Ministry of Science and Technology","doi-asserted-by":"publisher","award":["BT\/PR18182\/BIC\/101\/937\/2016"],"award-info":[{"award-number":["BT\/PR18182\/BIC\/101\/937\/2016"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009053","name":"The Wellcome Trust DBT India Alliance","doi-asserted-by":"publisher","award":["IA\/M\/15\/1\/502023"],"award-info":[{"award-number":["IA\/M\/15\/1\/502023"]}],"id":[{"id":"10.13039\/501100009053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.1007\/s12031-020-01560-5","type":"journal-article","created":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T19:03:21Z","timestamp":1589310201000},"page":"1403-1409","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A Novel Missense Variant in PHF6 Gene Causing B\u00f6rjeson-Forssman-Lehman Syndrome"],"prefix":"10.1007","volume":"70","author":[{"given":"Anikha","family":"Bellad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aravind K.","family":"Bandari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akhilesh","family":"Pandey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satish Chandra","family":"Girimaji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2257-3630","authenticated-orcid":false,"given":"Babylakshmi","family":"Muthusamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,5,12]]},"reference":[{"key":"1560_CR1","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1002\/ajmg.1320190405","volume":"19","author":"HH Ardinger","year":"1984","unstructured":"Ardinger HH, Hanson JW, Zellweger HU (1984) Borjeson-Forssman-Lehmann syndrome: further delineation in five cases. Am J Med Genet 19:653\u2013664. https:\/\/doi.org\/10.1002\/ajmg.1320190405","journal-title":"Am J Med Genet"},{"key":"1560_CR2","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1159\/000330111","volume":"1","author":"S Berland","year":"2011","unstructured":"Berland S, Alme K, Brendehaug A, Houge G, Hovland R (2011) PHF6 deletions may cause Borjeson-Forssman-Lehmann syndrome in females. Mol Syndromol 1:294\u2013300. https:\/\/doi.org\/10.1159\/000330111","journal-title":"Mol Syndromol"},{"key":"1560_CR3","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1111\/j.0954-6820.1962.tb04162.x","volume":"171","author":"M Borjeson","year":"1962","unstructured":"Borjeson M, Forssman H, Lehmann O (1962) An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med Scand 171:13\u201321. https:\/\/doi.org\/10.1111\/j.0954-6820.1962.tb04162.x","journal-title":"Acta Med Scand"},{"key":"1560_CR4","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1002\/ajmg.a.32624","volume":"149A","author":"MT Carter","year":"2009","unstructured":"Carter MT, Picketts DJ, Hunter AG, Graham GE (2009) Further clinical delineation of the Borjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations. Am J Med Genet A 149A:246\u2013250. https:\/\/doi.org\/10.1002\/ajmg.a.32624","journal-title":"Am J Med Genet A"},{"key":"1560_CR5","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1002\/pbc.22574","volume":"55","author":"MM Chao","year":"2010","unstructured":"Chao MM et al (2010) T-cell acute lymphoblastic leukemia in association with Borjeson-Forssman-Lehmann syndrome due to a mutation in PHF6. Pediatr Blood Cancer 55:722\u2013724. https:\/\/doi.org\/10.1002\/pbc.22574","journal-title":"Pediatr Blood Cancer"},{"key":"1560_CR6","doi-asserted-by":"publisher","unstructured":"Cheng C et al (2018) Characterization of a mouse model of Borjeson-Forssman-Lehmann syndrome cell rep 25:1404-1414 e1406. https:\/\/doi.org\/10.1016\/j.celrep.2018.10.043","DOI":"10.1016\/j.celrep.2018.10.043"},{"key":"1560_CR7","doi-asserted-by":"publisher","unstructured":"Crawford J, Lower K.M., Hennekam R.C., van Esch H., M\u00e9garban\u00e9 A., Lynch S.A., Turner G., G\u00e9cz J. (2006) Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. J Med Genet 43:238\u2013243 doi:https:\/\/doi.org\/10.1136\/jmg.2005.033084","DOI":"10.1136\/jmg.2005.033084"},{"key":"1560_CR8","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1111\/bjh.13891","volume":"175","author":"JD de Rooij","year":"2016","unstructured":"de Rooij JD et al (2016) PHF6 mutations in paediatric acute myeloid leukaemia. Br J Haematol 175:967\u2013971. https:\/\/doi.org\/10.1111\/bjh.13891","journal-title":"Br J Haematol"},{"key":"1560_CR9","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1111\/j.1365-2788.2009.01156.x","volume":"53","author":"CF de Winter","year":"2009","unstructured":"de Winter CF, van Dijk F, Stolker JJ, Hennekam RC (2009) Behavioural phenotype in Borjeson-Forssman-Lehmann syndrome. J Intellect Disabil Res 53:319\u2013328. https:\/\/doi.org\/10.1111\/j.1365-2788.2009.01156.x","journal-title":"J Intellect Disabil Res"},{"key":"1560_CR10","doi-asserted-by":"publisher","first-page":"10762","DOI":"10.1073\/pnas.0805139105","volume":"105","author":"N Dephoure","year":"2008","unstructured":"Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP (2008) A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A 105:10762\u201310767. https:\/\/doi.org\/10.1073\/pnas.0805139105","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1560_CR11","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1159\/000441047","volume":"6","author":"A Ernst","year":"2015","unstructured":"Ernst A et al (2015) The PHF6 mutation c.1A>G; pM1V causes Borjeson-Forsman-Lehmann syndrome in a family with four affected young boys. Mol Syndromol 6:181\u2013186. https:\/\/doi.org\/10.1159\/000441047","journal-title":"Mol Syndromol"},{"key":"1560_CR12","doi-asserted-by":"publisher","unstructured":"Gecz J, Turner G, Nelson J, Partington M (2006) The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900) European journal of human genetics : EJHG 14:1233\u20131237, https:\/\/doi.org\/10.1038\/sj.ejhg.5201639","DOI":"10.1038\/sj.ejhg.5201639"},{"key":"1560_CR13","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1101\/lm.028449.112","volume":"20","author":"KP Giese","year":"2013","unstructured":"Giese KP, Mizuno K (2013) The roles of protein kinases in learning and memory. Learn Mem 20:540\u2013552. https:\/\/doi.org\/10.1101\/lm.028449.112","journal-title":"Learn Mem"},{"key":"1560_CR14","doi-asserted-by":"publisher","unstructured":"Jahani-Asl A, Cheng C, Zhang C, Bonni A (2016) Pathogenesis of Borjeson-Forssman-Lehmann syndrome: Insights from PHF6 function Neurobiol dis 96:227-235. https:\/\/doi.org\/10.1016\/j.nbd.2016.09.011","DOI":"10.1016\/j.nbd.2016.09.011"},{"key":"1560_CR15","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1002\/ajmg.c.31415","volume":"166C","author":"T Kosho","year":"2014","unstructured":"Kosho T, Miyake N, Carey JC (2014) Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI\/SNF) complex: historical review and recent advances using next generation sequencing. Am J Med Genet C: Semin Med Genet 166C:241\u2013251. https:\/\/doi.org\/10.1002\/ajmg.c.31415","journal-title":"Am J Med Genet C: Semin Med Genet"},{"key":"1560_CR16","doi-asserted-by":"publisher","first-page":"3395","DOI":"10.1002\/pmic.200800943","volume":"9","author":"HJ Lee","year":"2009","unstructured":"Lee HJ, Na K, Kwon MS, Kim H, Kim KS, Paik YK (2009) Quantitative analysis of phosphopeptides in search of the disease biomarker from the hepatocellular carcinoma specimen. Proteomics 9:3395\u20133408. https:\/\/doi.org\/10.1002\/pmic.200800943","journal-title":"Proteomics"},{"key":"1560_CR17","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M et al (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536:285\u2013291. https:\/\/doi.org\/10.1038\/nature19057","journal-title":"Nature"},{"key":"1560_CR18","doi-asserted-by":"publisher","unstructured":"Lower KM et al (2002) Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome Nat genet 32:661-665. https:\/\/doi.org\/10.1038\/ng1040","DOI":"10.1038\/ng1040"},{"key":"1560_CR19","doi-asserted-by":"publisher","unstructured":"Lower KM et al (2004) 1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family European journal of human genetics : EJHG 12:787-789. https:\/\/doi.org\/10.1038\/sj.ejhg.5201228 5201228 [pii]","DOI":"10.1038\/sj.ejhg.5201228"},{"key":"1560_CR20","doi-asserted-by":"publisher","first-page":"2199","DOI":"10.1073\/pnas.0611217104","volume":"104","author":"H Molina","year":"2007","unstructured":"Molina H, Horn DM, Tang N, Mathivanan S, Pandey A (2007) Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. Proc Natl Acad Sci U S A 104:2199\u20132204. https:\/\/doi.org\/10.1073\/pnas.0611217104","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1560_CR21","doi-asserted-by":"publisher","first-page":"2270","DOI":"10.1038\/leu.2016.212","volume":"30","author":"T Mori","year":"2016","unstructured":"Mori T et al (2016) Somatic PHF6 mutations in 1760 cases with various myeloid neoplasms. Leukemia 30:2270\u20132273. https:\/\/doi.org\/10.1038\/leu.2016.212","journal-title":"Leukemia"},{"key":"1560_CR22","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1089\/omi.2017.0009","volume":"21","author":"B Muthusamy","year":"2017","unstructured":"Muthusamy B et al (2017) Next-generation sequencing reveals novel mutations in X-linked intellectual disability. OMICS 21:295\u2013303. https:\/\/doi.org\/10.1089\/omi.2017.0009","journal-title":"OMICS"},{"key":"1560_CR23","doi-asserted-by":"publisher","unstructured":"Muthusamy B et al (2019) Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected say-Meyer syndrome. Eur J Med Genet. https:\/\/doi.org\/10.1016\/j.ejmg.2019.02.007","DOI":"10.1016\/j.ejmg.2019.02.007"},{"key":"1560_CR24","doi-asserted-by":"publisher","unstructured":"Olsen JV et al (2010) Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. Sci Signal 3:ra3. https:\/\/doi.org\/10.1126\/scisignal.2000475","DOI":"10.1126\/scisignal.2000475"},{"key":"1560_CR25","doi-asserted-by":"publisher","first-page":"189728","DOI":"10.4061\/2011\/189728","volume":"2011","author":"P Salcedo-Tello","year":"2011","unstructured":"Salcedo-Tello P, Ortiz-Matamoros A, Arias C (2011) GSK3 function in the brain during development, Neuronal Plasticity, and Neurodegeneration. Int J Alzheimers Dis 2011:189728. https:\/\/doi.org\/10.4061\/2011\/189728","journal-title":"Int J Alzheimers Dis"},{"key":"1560_CR26","doi-asserted-by":"publisher","first-page":"18240","DOI":"10.1074\/jbc.M117.813527","volume":"292","author":"MY Shinde","year":"2017","unstructured":"Shinde MY et al (2017) Phosphoproteomics reveals that glycogen synthase kinase-3 phosphorylates multiple splicing factors and is associated with alternative splicing. J Biol Chem 292:18240\u201318255. https:\/\/doi.org\/10.1074\/jbc.M117.813527","journal-title":"J Biol Chem"},{"key":"1560_CR27","doi-asserted-by":"publisher","first-page":"19855","DOI":"10.1073\/pnas.0707579104","volume":"104","author":"MP Stokes","year":"2007","unstructured":"Stokes MP et al (2007) Profiling of UV-induced ATM\/ATR signaling pathways. Proc Natl Acad Sci U S A 104:19855\u201319860. https:\/\/doi.org\/10.1073\/pnas.0707579104","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1560_CR28","doi-asserted-by":"publisher","first-page":"4326","DOI":"10.1021\/pr3004369","volume":"11","author":"MA Todd","year":"2012","unstructured":"Todd MA, Picketts DJ (2012) PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex. J Proteome Res 11:4326\u20134337. https:\/\/doi.org\/10.1021\/pr3004369","journal-title":"J Proteome Res"},{"key":"1560_CR29","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1111\/j.0009-9163.2004.00215.x","volume":"65","author":"G Turner","year":"2004","unstructured":"Turner G et al (2004) The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clin Genet 65:226\u2013232. https:\/\/doi.org\/10.1111\/j.0009-9163.2004.00215.x","journal-title":"Clin Genet"},{"key":"1560_CR30","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1038\/ng.542","volume":"42","author":"P Van Vlierberghe","year":"2010","unstructured":"Van Vlierberghe P et al (2010) PHF6 mutations in T-cell acute lymphoblastic leukemia. Nat Genet 42:338\u2013342. https:\/\/doi.org\/10.1038\/ng.542","journal-title":"Nat Genet"},{"key":"1560_CR31","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1038\/leu.2010.247","volume":"25","author":"P Van Vlierberghe","year":"2011","unstructured":"Van Vlierberghe P et al (2011) PHF6 mutations in adult acute myeloid leukemia. Leukemia 25:130\u2013134. https:\/\/doi.org\/10.1038\/leu.2010.247","journal-title":"Leukemia"},{"key":"1560_CR32","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1016\/j.modgep.2007.06.007","volume":"7","author":"AK Voss","year":"2007","unstructured":"Voss AK, Gamble R, Collin C, Shoubridge C, Corbett M, Gecz J, Thomas T (2007) Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann syndrome of intellectual disability and obesity gene. Expr Patterns 7:858\u2013871. https:\/\/doi.org\/10.1016\/j.modgep.2007.06.007","journal-title":"Expr Patterns"},{"key":"1560_CR33","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1136\/jmedgenet-2012-101490","volume":"50","author":"MH Willemsen","year":"2013","unstructured":"Willemsen MH et al (2013) GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. J Med Genet 50:507\u2013514. https:\/\/doi.org\/10.1136\/jmedgenet-2012-101490","journal-title":"J Med Genet"},{"key":"1560_CR34","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1016\/j.neuron.2013.04.021","volume":"78","author":"C Zhang","year":"2013","unstructured":"Zhang C et al (2013) The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain. Neuron 78:986\u2013993. https:\/\/doi.org\/10.1016\/j.neuron.2013.04.021","journal-title":"Neuron"},{"key":"1560_CR35","doi-asserted-by":"publisher","unstructured":"Zhang X et al (2019) A novel nonsense mutation of PHF6 in a female with extended phenotypes of Borjeson-Forssman-Lehmann syndrome. J Clin Res Pediatr Endocrinol. https:\/\/doi.org\/10.4274\/jcrpe.0220","DOI":"10.4274\/jcrpe.0220"},{"key":"1560_CR36","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1002\/ajmg.c.31408","volume":"166C","author":"C Zweier","year":"2014","unstructured":"Zweier C et al (2014) Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with coffin-Siris syndrome. Am J Med Genet C: Semin Med Genet 166C:290\u2013301. https:\/\/doi.org\/10.1002\/ajmg.c.31408","journal-title":"Am J Med Genet C: Semin Med Genet"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01560-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12031-020-01560-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01560-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T23:16:31Z","timestamp":1620774991000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12031-020-01560-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,12]]},"references-count":36,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["1560"],"URL":"https:\/\/doi.org\/10.1007\/s12031-020-01560-5","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,12]]},"assertion":[{"value":"3 January 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 April 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 May 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"This study was approved by the institutional ethical committee at National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee (include name of committee + reference number) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"Appropriate informed consent was obtained from the parents of the patients as the patients were minor. This article does not contain any studies with animals performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights and Informed Consent"}}]}}