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Germline heterozygous variants in\n                    <jats:italic>SUZ12<\/jats:italic>\n                    have been found in Imagawa\u2013Matsumoto syndrome (IMMAS) characterized by overgrowth and multiple dysmorphic features. Similarly, both\n                    <jats:italic>EZH2<\/jats:italic>\n                    and\n                    <jats:italic>EED<\/jats:italic>\n                    also encode a subunit of PRC2 each and their pathogenic variants cause Weaver syndrome and Cohen\u2013Gibson syndrome, respectively. Clinical manifestations of these syndromes significantly overlap, although their different prevalence rates have recently been noted: generalized overgrowth, intellectual disability, scoliosis, and excessive loose skin appear to be less prevalent in IMMAS than in the other two syndromes. We could not determine any apparent genotype\u2013phenotype correlation in IMMAS. The phenotype of neurofibromatosis type 1 arising from\n                    <jats:italic>NF1<\/jats:italic>\n                    deletion was also shown to be modified by the deletion of\n                    <jats:italic>SUZ12<\/jats:italic>\n                    , 560\u2009kb away. This review deepens our understanding of the clinical and genetic characteristics of IMMAS together with other overgrowth syndromes related to PRC2. We also report on a novel IMMAS patient carrying a splicing variant (c.1023+1G&gt;C) in\n                    <jats:italic>SUZ12<\/jats:italic>\n                    . This patient had a milder phenotype than other previously reported IMMAS cases, with no macrocephaly or overgrowth phenotypes, highlighting the clinical variation in IMMAS.\n                  <\/jats:p>","DOI":"10.1111\/cge.14296","type":"journal-article","created":{"date-parts":[[2023,1,16]],"date-time":"2023-01-16T08:56:26Z","timestamp":1673859386000},"page":"383-391","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Imagawa\u2013Matsumoto syndrome:\n                    <i>SUZ12<\/i>\n                    \u2010related overgrowth disorder"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2466-240X","authenticated-orcid":false,"given":"Eri","family":"Imagawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics The Jikei University School of Medicine  Tokyo 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Graduate School of Medicine  Yokohama Japan"},{"name":"Department of Rare Disease Genomics Yokohama City University Hospital  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno Guimaraes","family":"Marcarini","sequence":"additional","affiliation":[{"name":"Genetics Unit, Instituto da Crianca, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Furquim","sequence":"additional","affiliation":[{"name":"Genetics Unit, Instituto da Crianca, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel Sayuri","family":"Honjo","sequence":"additional","affiliation":[{"name":"Genetics Unit, Instituto da Crianca, Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo 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