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Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in <jats:italic>CENPF<\/jats:italic>. A 3\u2010month\u2010old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to \u201capple peel\u201d intestinal atresia had been noted. Regarding the clinical features of both affected siblings, a diagnosis of Stromme syndrome was established. Exome\u2010sequencing of these two cases showed the homozygous mutation (c.5912_5913insA)\/(p.T1974Nfs*9) in <jats:italic>CENPF<\/jats:italic>. While confirmation of this gene being responsible for Stromme syndrome was pending our results, Filges et al. reported that <jats:italic>CENPF<\/jats:italic> was indeed underlying the reason for Stromme syndrome. This is the second case report identifying <jats:italic>CENPF<\/jats:italic> mutation as the cause of Stromme syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38173","type":"journal-article","created":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T18:36:14Z","timestamp":1492108574000},"page":"1668-1672","source":"Crossref","is-referenced-by-count":10,"title":["A further family of Stromme syndrome carrying <i>CENPF<\/i> mutation"],"prefix":"10.1002","volume":"173","author":[{"given":"Ferda","family":"Ozkinay","sequence":"first","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine Ege University Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahir","family":"Atik","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine Ege University Izmir 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