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Both parents were unaffected, suggesting the presence of an autosomal recessive syndrome. Following exome sequencing, a heterozygous nonsense variant was identified in the <jats:italic>NFIX<\/jats:italic> gene in all three siblings. The father appeared to have a low\u2010grade (7%) mosaicism for this variant in his blood. Previously, de novo pathogenic variants in <jats:italic>NFIX<\/jats:italic> have been identified in Marshall\u2013Smith syndrome and Malan syndrome, which share distinctive phenotypic features shared with the patients of the present family. This case emphasizes the importance of further molecular analysis especially in familial cases, to exclude the possibility of parental mosaicism.<\/jats:p>","DOI":"10.1002\/ajmg.a.61835","type":"journal-article","created":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T08:43:50Z","timestamp":1600418630000},"page":"2731-2736","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Pathogenic variant in <scp><i>NFIX<\/i><\/scp> gene affecting three sisters due to paternal mosaicism"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8759-9532","authenticated-orcid":false,"given":"Nydia Rena Benita","family":"Sihombing","sequence":"first","affiliation":[{"name":"Doctoral Program of Medical and Health Sciences, Faculty of Medicine Diponegoro University  Semarang Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5450-2813","authenticated-orcid":false,"given":"Tri Indah","family":"Winarni","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University  Semarang Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2153-9254","authenticated-orcid":false,"given":"Hans","family":"van Bokhoven","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ineke","family":"van der Burgt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9796-3342","authenticated-orcid":false,"given":"Nicole","family":"de Leeuw","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6531-632X","authenticated-orcid":false,"given":"Sultana M. 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