在一名患有博林格-奥皮茨综合征的土耳其男孩身上发现了p.Gly646Trpfs*12突变。
The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
作者信息
Urreizti Roser, Gürsoy Semra, Castilla-Vallmanya Laura, Cunill Guillem, Rabionet Raquel, Erçal Derya, Grinberg Daniel, Balcells Susana
机构信息
Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona IBUB, IRSJD, CIBERER Barcelona Spain.
Department of Pediatric Genetics Dokuz Eylül University İzmir Turkey.
出版信息
Clin Case Rep. 2018 Jun 10;6(8):1452-1456. doi: 10.1002/ccr3.1603. eCollection 2018 Aug.
In line with a recent study showing that mutations found in the common population cannot be ruled out as pathogenic, we have identified the p.Gly646Trpfs*12 mutation-present in 132 individuals in ExAC-as a very probable cause of the disease in a Bohring-Opitz syndrome patient.
与最近一项研究结果一致，该研究表明普通人群中发现的突变不能排除其致病性，我们在一名博林-奥皮茨综合征患者中，将ExAC数据库中132人存在的p.Gly646Trpfs*12突变确定为该疾病极有可能的病因。
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