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Additionally, in a 30\u2010week\u2010old fetus with severe growth retardation and duodenal atresia a de novo p.Pro805Leu <jats:italic>KCNMA1<\/jats:italic> mutation was identified. The latter has also been reported before in a boy with severe neurological manifestations, including speech delay, developmental delay, and cerebellar dysfunction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The current report presents the first antenatal presentation of a pathogenic <jats:italic>KCNMA1<\/jats:italic> mutation and confirms the specific association of the p.Gly375Arg variant with early onset aortic root dilatation, gingival hypertrophy, and neonatal overgrowth.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1797","type":"journal-article","created":{"date-parts":[[2021,9,9]],"date-time":"2021-09-09T13:42:30Z","timestamp":1631194950000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Two novel presentations of KCNMA1\u2010related pathology\u2013\u2013Expanding the clinical phenotype of a rare channelopathy"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4908-931X","authenticated-orcid":false,"given":"Jotte","family":"Rodrigues Bento","sequence":"first","affiliation":[{"name":"Centre of Medical Genetics Antwerp University Hospital University of Antwerp Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candice","family":"Feben","sequence":"additional","affiliation":[{"name":"Division of Human Genetics National Health Laboratory Service &amp; 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