{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T08:04:14Z","timestamp":1774598654110,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,9]],"date-time":"2019-12-09T00:00:00Z","timestamp":1575849600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. Its causative gene is the X\u2010linked <jats:italic>MECP2<\/jats:italic> encoding the methyl\u2010CpG\u2010binding protein 2 (MeCP2). The gene comprises four exons and generates two isoforms, namely <jats:italic>MECP2_e1<\/jats:italic> and <jats:italic>MECP2_e2.<\/jats:italic> However, it remains unclear whether both MeCP2 isoforms have similar function in the brain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a case of a boy with typical RTT. Male cases with <jats:italic>MECP2<\/jats:italic> variants have been considered inviable, but somatic mosaicism of the variants can cause RTT in males. Whole\u2010exome sequencing was performed to search for the genetic background.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel nonsense and mosaic variant was identified in exon 1 of <jats:italic>MECP2<\/jats:italic>, and the variant allele fraction (VAF) was 28%. Our patient had the same level of VAF as that in reported male cases with mosaic variants in <jats:italic>MECP2<\/jats:italic> exon 3 or 4, but manifested RTT symptoms that were milder in severity compared to those in these patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is probably because the variants in <jats:italic>MECP2<\/jats:italic> exon 3 or 4 disrupt both isoforms of MeCP2, whereas the variant in exon 1, as presented in this study, disrupts only MeCP2_e1 but not MeCP2_e2. Therefore, our findings indicate that MeCP2_e2 may partially compensate for a deficiency in MeCP2_e1.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1088","type":"journal-article","created":{"date-parts":[[2019,12,10]],"date-time":"2019-12-10T00:30:06Z","timestamp":1575937806000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5063-8625","authenticated-orcid":false,"given":"Ryo","family":"Takeguchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4707-4010","authenticated-orcid":false,"given":"Satoru","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mami","family":"Kuroda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryosuke","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nao","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Tomonoh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fukuoka University Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiko","family":"Ihara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fukuoka University Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuyoshi","family":"Sugiyama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tokai University Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayuki","family":"Itoh","sequence":"additional","affiliation":[{"name":"Department of Mental Retardation and Birth Defect Research National Institute of Neuroscience National Center of Neurology and Psychiatry Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2017.11.002"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.309864"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn026"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.145"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201080"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1327"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22124"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32776"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13473"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-16620"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.815108"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00944.x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200745"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.049452"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt640"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0348-2"}],"container-title":["Molecular Genetics &amp; 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