Received: 4 October 2016 | Revised: 16 January 2017 | Accepted: 18 January 2017 DOI: 10.1002/ajmg.a.38173 CLINICAL REPORT A further family of Stromme syndrome carrying CENPF mutation Ferda Ozkinay 1 | Tahir Atik 1 | Esra Isik 1 | Zeliha Gormez 2 | Mahmut Sagiroglu 2 | Ozlem Atan Sahin 3 | Nergul Corduk 4 | Huseyin Onay 5 1 Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey 2 Advanced Genomics and Bioinformatics Research Center, TUBITAK-BILGEM, Kocaeli, Turkey 3 Biochemistry and Molecular Biology, Institude of Health Sciences, Acibadem University, Istanbul, Turkey 4 Department of Pediatric Surgery, Faculty of Medicine, Pamukkale University, Denizli, Turkey 5 Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey Correspondence Esra Isik, MD, Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey. Email: esrabadak36@gmail.com Funding information Republic of Turkey Ministry of Development Infrastructure Grant, Grant number: 215S179; BILGEM—TUBITAK (The Scientific and Technological Research Council of Turkey), Grant number: T439000 Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and “apple peel” type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF.A 3-month-old 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 “apple peel” intestinal atresia had been noted. Regarding the clinical features of both affected siblings, a diagnosis of Stromme syndrome was established. Exome-sequencing of these two cases showed the homozygous mutation (c.5912_5913insA)/(p.T1974Nfs*9) in CENPF. While confirmation of this gene being responsible for Stromme syndrome was pending our results, Filges et al. reported that CENPF was indeed underlying the reason for Stromme syndrome. This is the second case report identifying CENPF mutation as the cause of Stromme syndrome. KEYWORDS centromere protein F, ciliopathy, exome, gene discovery, massively parallel sequencing, microcephaly, Stromme syndrome 1 | INTRODUCTION Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and “apple peel” type jejunal atresia. Stromme, Dahl, Flage, and Stene-Johansen (1993) first described the syndrome in a family that included two affected sisters. Following this description, several reports have been published in the literature. However, phenotypic variabilities in the patients have been reported (Bellini, Mazzella, Arioni, Fondelli, & Serra, 2002; Bower et al., 2003; Slee & Goldblatt, 1996; Shanske et al., 2002; van Bever et al., 2008). While individually, these reports indicate that the inheritance pattern of the syndrome is autosomal recessive, the exact etiology remained unknown for two decades. Waters et al. (2015) identified truncating mutations in CENPF in four affected fetuses of a non- consanguineous family. They had presented with an autosomal recessively inherited ciliopathy. In another unrelated patient exhibiting isolated microcephaly a mutation in CENPF was also detected. However, neither case had previously being diagnosed as Stromme syndrome. Additionally, they were also able to show biological roles of CENPF in ciliogenesis, ciliary function, and organ formation during early embryonic development. Very recently, using family-based exome sequencing, Filges et al. (2016) discovered that mutations in CENPF were responsible for Stromme syndrome. The authors reported compound heterozygous mutations of CENPF in two unrelated families with affected members. Herein, we report another Stromme syndrome family whose exome sequencing has shown a homozygous truncating mutation in CENPF confirming the findings of Filges et al. (2016). 2 | CLINICAL REPORT A 3 month-old girl was hospitalized for prenatally identified microcephaly, bilateral microphthalmia with corneal clouding on the Am J Med Genet. 2017;9999:1–5 wileyonlinelibrary.com/journal/ajmga © 2017 Wiley Periodicals, Inc. | 1