New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.
作者信息
Ben-Salem Salma, Nara Sobreira, Al-Shamsi Aisha M, Valle David, Ali Bassam R, Al-Gazali Lihadh
机构信息
Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
出版信息
J Dermatol. 2015 Aug;42(8):821-2. doi: 10.1111/1346-8138.12917. Epub 2015 May 11.
Abstract
摘要
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New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.患有脑发育不全、神经病变、鱼鳞病和皮肤角化病综合征的新阿拉伯家族提示c.223delG突变可能存在奠基者效应。
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J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11.
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CEDNIK syndrome results from loss-of-function mutations in SNAP29.CEDNIK 综合征是由 SNAP29 的功能丧失性突变引起的。
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3
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.编码参与细胞内运输的SNARE蛋白的SNAP29发生突变，会导致一种新型神经皮肤综合征，其特征为脑发育不全、神经病变、鱼鳞病和掌跖角化病。
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