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Deletions at 2p25.3 associate with early\u2010onset obesity and variable intellectual disability. <jats:italic>Myelin\u2010transcriptor\u2010factor\u20101\u2010like<\/jats:italic> (<jats:italic>MYT1L)<\/jats:italic> gene in this locus has been proposed a candidate gene for obesity. We report on a 13\u2010year\u2010old boy presenting with overweight already at 1 year of age (body mass index [BMI] Z\u2010score +2.3) and obesity at 2 years of age (BMI Z\u2010score +3.8). The patient had hyperphagia and delayed neurological, cognitive and motor development. He also had speech delay, strabismus, hyperactivity and intellectual disability. Brain MRI was normal. The parents and sister had normal BMI. Whole\u2010genome sequencing identified in the index patient a novel <jats:italic>de novo<\/jats:italic> frameshift deletion that introduces a premature termination of translation NM_015025.2(MYT1L): c.2215_2224delACGCGCTGCC, p.(Thr739Alafs*7) in <jats:italic>MYT1L.<\/jats:italic> The frameshift variant was confirmed by Sanger sequencing. Our finding supports the association of <jats:italic>MYT1L<\/jats:italic> mutations with early\u2010onset syndromic obesity. The identification of novel monogenic forms of childhood\u2010onset obesity will provide insights to the involved genetic and biologic pathways.<\/jats:p>","DOI":"10.1002\/ajmg.a.40370","type":"journal-article","created":{"date-parts":[[2018,7,29]],"date-time":"2018-07-29T07:28:03Z","timestamp":1532849283000},"page":"1972-1975","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["A novel <i>MYT1L<\/i> mutation in a patient with severe early\u2010onset obesity and intellectual disability"],"prefix":"10.1002","volume":"176","author":[{"given":"Petra","family":"Loid","sequence":"first","affiliation":[{"name":"Children's Hospital, University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Folkh\u00e4lsan Institute of Genetics, University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riikka","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"Children's Hospital, University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Folkh\u00e4lsan Institute of Genetics, University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1408-9272","authenticated-orcid":false,"given":"Alice","family":"Costantini","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Center for Molecular Medicine, Karolinska Institutet  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heli","family":"Viljakainen","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Institute of Genetics, University of Helsinki  Helsinki Finland"},{"name":"Department of Food and Environmental Sciences University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2947-4683","authenticated-orcid":false,"given":"Minna","family":"Pekkinen","sequence":"additional","affiliation":[{"name":"Children's Hospital, University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Folkh\u00e4lsan Institute of Genetics, University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4547-001X","authenticated-orcid":false,"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"Children's Hospital, University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Folkh\u00e4lsan Institute of Genetics, University of Helsinki  Helsinki Finland"},{"name":"Department of Molecular Medicine and Surgery Center for Molecular Medicine, Karolinska Institutet  Stockholm Sweden"},{"name":"Department of Clinical Genetics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006957"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-7-53"},{"issue":"4","key":"e_1_2_8_4_1","first-page":"338","article-title":"Autosomal recessive osteogenesis imperfecta caused by a novel homozygous COL1A2 mutation","volume":"93","author":"Costantini A.","year":"2018","journal-title":"Calcified Tissue International"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.124"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.189"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/obr.12531"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/npp.2017.91"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21722"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34274"},{"issue":"03","key":"e_1_2_8_11_1","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1210\/jc.2016-2573","article-title":"Pediatric obesity\u2014Assessment, treatment, and prevention: An endocrine society clinical practice guideline","volume":"102","author":"Styne D. 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