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The p.H119Y variant is a non\u2010conservative amino acid substitution that is predicted to impact the tertiary protein structure, and it occurs at a position in the protein kinase domain of <jats:italic>MAP2K1<\/jats:italic> that is highly conserved across species. The clinical findings in these three individuals include facial features that are nonclassical for CFC syndrome, extremely poor weight gain, absence of congenital cardiac defects or cardiomyopathy, normal cognition or only mild intellectual disabilities, normal hair, mild skin abnormalities, and consistent behavioral features of anxiety, photophobia, and sensory hypersensitivities. These individuals expand the phenotypic spectrum of <jats:italic>MAP2K1<\/jats:italic>\u2010related RASopathy.<\/jats:p>","DOI":"10.1002\/ajmg.a.63854","type":"journal-article","created":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T02:50:11Z","timestamp":1724295011000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Recurrent p.<scp>H119Y<\/scp> variant in <scp><i>MAP2K1<\/i><\/scp> expands the phenotypic spectrum of <scp><i>MAP2K1<\/i><\/scp>\u2010related RASopathy"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7425-6322","authenticated-orcid":false,"given":"Dorothy K.","family":"Grange","sequence":"first","affiliation":[{"name":"Edward Mallinckrodt Department of Pediatrics Washington University in St. Louis  St. Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel J.","family":"Wegner","sequence":"additional","affiliation":[{"name":"Edward Mallinckrodt Department of Pediatrics Washington University in St. Louis  St. Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer A.","family":"Wambach","sequence":"additional","affiliation":[{"name":"Edward Mallinckrodt Department of Pediatrics Washington University in St. Louis  St. Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen A.","family":"Sisco","sequence":"additional","affiliation":[{"name":"Edward Mallinckrodt Department of Pediatrics Washington University in St. Louis  St. Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen I.","family":"Stone","sequence":"additional","affiliation":[{"name":"Edward Mallinckrodt Department of Pediatrics Washington University in St. Louis  St. Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan H.","family":"Sheehan","sequence":"additional","affiliation":[{"name":"John T. 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