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导致伴有痉挛性双瘫和视觉缺陷及周围神经病的神经发育障碍的 CTNNB1 新型变异:病例报告。

Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report.

机构信息

Department of Pediatrics, Child Neurology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

University of Helsinki, Helsinki, Finland.

出版信息

Am J Med Genet A. 2022 Oct;188(10):3118-3120. doi: 10.1002/ajmg.a.62902. Epub 2022 Jul 25.

Abstract

Pathogenic variants in the β1-catenin (CTNNB1) gene have been identified in patients with various diseases, including syndromic intellectual disability, autism spectrum disorder, familial exudative vitreoretinopathy, and neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). We report on the clinical, genetic, neuroimaging, and neurophysiological data of a 15-year-old patient with complex hereditary spastic paraplegias with exotropia, dyskinesia, and cerebellar signs and a so-far unreported demyelinating (mainly sensory) polyneuropathy in her lower limbs. She carries the novel, de novo, likely pathogenic heterozygous c.603_605delinsAATA, p.(Met202Ilefs*6) frameshift variant in the CTNNB1 gene. Although peripheral neuropathy was not previously associated with NEDSDV, in light of the role of β1-catenin as a junction protein in the peripheral as well as in the central nervous system documented in experimental studies, it might represent a causally linked and under-reported finding to be further explored.

摘要

β1-连环蛋白(CTNNB1)基因中的致病性变异已在患有各种疾病的患者中被发现,包括综合征性智力障碍、自闭症谱系障碍、家族性渗出性玻璃体视网膜病变和伴有痉挛性双瘫和视觉缺陷的神经发育障碍(NEDSDV)。我们报告了一位 15 岁患者的临床、遗传、神经影像学和神经生理学数据,该患者患有伴有外斜视、运动障碍和小脑征的复杂遗传性痉挛性截瘫,以及下肢未报告过的脱髓鞘(主要是感觉)多发性神经病。她携带 CTNNB1 基因中的新型、新生、可能致病性的杂合 c.603_605delinsAATA,p.(Met202Ilefs*6)移码变异。尽管以前未将周围神经病变与 NEDSDV 相关联,但鉴于β1-连环蛋白作为实验研究中中枢神经系统和周围神经系统的连接蛋白的作用,它可能代表一种因果相关且报告不足的发现,有待进一步探索。

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