Ozkinay Ferda, Atik Tahir, Isik Esra, Gormez Zeliha, Sagiroglu Mahmut, Sahin Ozlem Atan, Corduk Nergul, Onay Huseyin
Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
Advanced Genomics and Bioinformatics Research Center, TUBITAK-BILGEM, Kocaeli, Turkey.
Am J Med Genet A. 2017 Jun;173(6):1668-1672. doi: 10.1002/ajmg.a.38173. Epub 2017 Apr 13.
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.
斯特罗姆综合征是一种罕见的遗传性疾病，其特征为小头畸形、眼前房异常和“苹果皮”型空肠闭锁。在此，我们报告一个斯特罗姆综合征家族，有两名患病的兄弟姐妹，他们的CENPF基因存在纯合性截短移码突变。一名3个月大的女孩因产前诊断出小头畸形、小眼症和畸形特征而住院。此前有一个孩子也有相同的表现，此外还发现了“苹果皮”型肠道闭锁。根据两名患病兄弟姐妹的临床特征，确诊为斯特罗姆综合征。对这两例病例进行外显子组测序，结果显示CENPF基因存在纯合突变（c.5912_5913insA）/（p.T1974Nfs*9）。在我们的结果证实该基因是导致斯特罗姆综合征的原因之前，菲尔格斯等人报告称，CENPF基因确实是斯特罗姆综合征的病因。这是第二例将CENPF突变鉴定为斯特罗姆综合征病因的病例报告。
