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This report presents an individual with BPAN showing clinical features of RTT. Psychomotor delay and epilepsy onset were noted at 1 year, and regression began at 4\u2009years. Screening of the methyl\u2010CpG binding protein 2 (<jats:italic>MECP2<\/jats:italic>) did not show variants. At 22\u2009years, basal ganglia iron deposits were found on magnetic resonance imaging (MRI), and the WD\u2010domain repeat 45 gene (<jats:italic>WDR45<\/jats:italic>) variant was identified. Review of the literature showed that BPAN with RTT\u2010like features is associated with more epileptic seizures and less deceleration of head growth, breathing irregularities, and cold extremities than classic RTT with <jats:italic>MECP2<\/jats:italic> variants. These clinical presentations may provide clues for differentiating between these two disorders. However, both <jats:italic>WDR45<\/jats:italic> and <jats:italic>MECP2<\/jats:italic> should be screened in patients presenting a clinical picture of RTT without specific MRI findings of BPAN.<\/jats:p>","DOI":"10.1002\/ajmg.a.61993","type":"journal-article","created":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T10:02:46Z","timestamp":1606730566000},"page":"579-583","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Beta\u2010propeller protein\u2013associated neurodegeneration presenting Rett\u2010like features: A case report and literature review"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6413-0953","authenticated-orcid":false,"given":"Kanako","family":"Kano","sequence":"first","affiliation":[{"name":"Division of Pediatrics and Adolescent Medicine Tokyo Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaku","family":"Yamanaka","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Adolescent Medicine Tokyo Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9256-5591","authenticated-orcid":false,"given":"Kazuhiro","family":"Muramatsu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jichi Medical University  Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichiro","family":"Morichi","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Adolescent Medicine Tokyo Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Ishida","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Adolescent Medicine Tokyo Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Takamatsu","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Adolescent Medicine Tokyo Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Adolescent Medicine Tokyo Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tasuku","family":"Miyajima","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Adolescent Medicine Tokyo Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9452-112X","authenticated-orcid":false,"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisashi","family":"Kawashima","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Adolescent Medicine Tokyo Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,30]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8475-2"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13957"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2019.100483"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2019.01.028"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1021\/acschemneuro.7b00346"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.019"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt095"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2016.01.003"},{"key":"e_1_2_8_10_1","unstructured":"Kaur S. &Christodoulou J.(2019).MECP2 Disorders. 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