"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.

4区 生物学 Q2 Biochemistry, Genetics and Molecular Biology
Advances in Genetics Pub Date : 2020-01-01 Epub Date: 2020-05-26 DOI:10.1016/bs.adgen.2020.03.002
Mark James Hamilton, Mohnish Suri
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引用次数: 16

Abstract

Potassium channels are a heterogeneous group of membrane-bound proteins, whose functions support a diverse range of biological processes. Genetic disorders arising from mutations in potassium channels are classically recognized by symptoms arising from acute channel dysfunction, such as periodic paralysis, ataxia, seizures, or cardiac conduction abnormalities, often in a patient with otherwise normal examination findings. In this chapter, we review a distinct subgroup of rare potassium channelopathies whose presentations are instead suggestive of a developmental disorder, with features including intellectual disability, craniofacial dysmorphism or other physical anomalies. Known conditions within this subgroup are: Andersen-Tawil syndrome, Birk-Barel syndrome, Cantú syndrome, Keppen-Lubinsky syndrome, Temple-Baraitser syndrome, Zimmerman-Laband syndrome and a very similar disorder called Bauer-Tartaglia or FHEIG syndrome. Ion channelopathies are unlikely to be routinely considered in the differential diagnosis of children presenting with developmental concerns, and so detailed description and photographs of the clinical phenotype are provided to aid recognition. For several of these disorders, functional characterization of the genetic mutations responsible has led to identification of candidate therapies, including drugs already commonly used for other indications, which adds further impetus to their prompt recognition. Together, these cases illustrate the potential for mechanistic insights gained from genetic diagnosis to drive translational work toward targeted, disease-modifying therapies for rare disorders.

“电性畸形”:钾通道病变引起畸形综合征。
钾离子通道是一组异质性的膜结合蛋白,其功能支持多种生物过程。钾通道突变引起的遗传性疾病通常由急性通道功能障碍引起的症状来识别,如周期性麻痹、共济失调、癫痫发作或心脏传导异常,通常发生在检查结果正常的患者身上。在本章中,我们回顾了罕见的钾通道病的一个独特的亚群,其表现暗示了一种发育障碍,其特征包括智力残疾,颅面畸形或其他身体异常。已知的这类疾病有:Andersen-Tawil综合征,Birk-Barel综合征,Cantú综合征,Keppen-Lubinsky综合征,Temple-Baraitser综合征,Zimmerman-Laband综合征和一种非常相似的称为Bauer-Tartaglia或FHEIG综合征的疾病。在表现出发育问题的儿童的鉴别诊断中,离子通道病不太可能被常规考虑,因此提供临床表型的详细描述和照片以帮助识别。对于其中一些疾病,基因突变的功能特征导致了候选治疗方法的确定,包括已经普遍用于其他适应症的药物,这进一步推动了它们的迅速识别。总之,这些病例说明了从遗传诊断中获得的机制见解的潜力,从而推动了针对罕见疾病的靶向、疾病修饰疗法的转化工作。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Advances in Genetics
Advances in Genetics 生物-遗传学
CiteScore
5.70
自引率
0.00%
发文量
1
审稿时长
1 months
期刊介绍: Advances in Genetics presents an eclectic mix of articles of use to all human and molecular geneticists. They are written and edited by recognized leaders in the field and make this an essential series of books for anyone in the genetics field.
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