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Here, we report an affected subject of Kurdish origin from Turkey presenting with facial dysmorphisms, such as, hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows, umbilical hernia, and caudal appendage. These features were compatible with 3MC syndrome. Molecular analysis revealed a novel homozygous pathogenic variant, c.310C\u2009&gt;\u2009T; p.Gln104Ter in the <jats:italic>MASP1<\/jats:italic> gene, resulting in a premature stop codon. Few subjects with 3MC syndrome have been reported in the literature so far. Thus, detailed study of this subject contributes to the evolving clinical and genetic characterization of 3MC syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62191","type":"journal-article","created":{"date-parts":[[2021,3,25]],"date-time":"2021-03-25T19:22:42Z","timestamp":1616700162000},"page":"2267-2270","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<scp><i>MASP1<\/i><\/scp>\u2010related <scp>3MC<\/scp> syndrome in a patient from Turkey"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6054-0709","authenticated-orcid":false,"given":"Ceren Damla","family":"Durmaz","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of Health Sciences, Gazi Ya\u015fargil Training and Research Hospital  Diyarbak\u0131r Turkey"},{"name":"Department of Medical Genetics, Faculty of Medicine Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5789-8630","authenticated-orcid":false,"given":"\u015eule","family":"Alt\u0131ner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Health Sciences, Kanuni Training and Research Hospital  Trabzon Turkey"},{"name":"Department of Medical Genetics, Faculty of Medicine Ankara University  Ankara 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