婴儿痉挛伴NF1和GABBR1三种可能致病的新生错义变异的病例。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2023-11-22 DOI:10.1038/s41439-023-00256-7

Kazuki Watanabe, Kazuo Kubota, Mitsuko Nakashima, Hirotomo Saitsu

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引用次数: 0

摘要

1型神经纤维瘤病(NF1)是最常见的遗传性神经皮肤病之一。在这里，我们报告了一个独特的病例，患者具有典型的NF1表现和婴儿痉挛，有三种可能的致病性新发变异，位于cis的NF1中C . 3586c >T, p.(Leu1196Phe)和C . 3590c >T, p.(Ala1197Val)， GABBR1中C . 1042g >C, p.(Ala348Pro)。这项研究有助于我们理解两种顺式变异对NF1表型和gabbr1相关神经精神疾病的影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.

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A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.

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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks