1例患有神经纤维瘤病1型（NF1）和γ-氨基丁酸B型受体1（GABBR1）3种可能致病的新生错义变异的婴儿痉挛症病例。
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.
作者信息
Watanabe Kazuki, Kubota Kazuo, Nakashima Mitsuko, Saitsu Hirotomo
机构信息
Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
出版信息
Hum Genome Var. 2023 Nov 22;10(1):30. doi: 10.1038/s41439-023-00256-7.
Neurofibromatosis type 1 (NF1) is one of the most common hereditary neurocutaneous disorders. Here, we report a unique case of a patient with typical NF1 findings and infantile spasms who had three possibly pathogenic de novo variants, c.3586C>T, p.(Leu1196Phe) and c.3590C>T, p.(Ala1197Val) in NF1 located in cis and c.1042G>C, p.(Ala348Pro) in GABBR1. This study contributes to our understanding of the effect of two cis variants on NF1 phenotypes and GABBR1-related neuropsychiatric disorders.
1型神经纤维瘤病（NF1）是最常见的遗传性神经皮肤疾病之一。在此，我们报告了一例独特的病例，该患者有典型的NF1表现和婴儿痉挛症，其NF1基因中有三个可能致病的新生变异，即位于顺式结构中的c.3586C>T，p.（Leu1196Phe）和c.3590C>T，p.（Ala1197Val），以及GABBR1基因中的c.1042G>C，p.（Ala348Pro）。本研究有助于我们理解两个顺式变异对NF1表型和GABBR1相关神经精神疾病的影响。
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