两例无关联病例中与 FOXC1 相关疾病相关的脑白质异常谱。
Spectrum of white matter abnormalities associated with FOXC1-related disorders in two unrelated cases.
机构信息
Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
Department of Neurology & Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
出版信息
Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):167-171. doi: 10.1002/ajmg.c.32051. Epub 2023 May 31.
The purpose of this study is to document the wide spectrum of white matter abnormalities associated with FOXC1 pathogenic variants. We report two adult individuals-a 60-year-old individual and a 24-year-old one, presenting with hearing loss, anterior eye segment dysgenesis, and very different severity of cerebral small vessel disease. Molecular testing documented the presence of FOXC1 pathogenic variants in both individuals. Our paper documents the broad spectrum of radiological white matter involvement in adult individuals with FOXC1-related disorders. Mild forms of FOXC1-related small vessel disease, as we observed in individual 2, should be included in the list of genetic mimickers of MS.
本研究旨在记录与 FOXC1 致病性变异相关的广泛的白质异常。我们报告了两个成年个体——一个 60 岁的个体和一个 24 岁的个体，他们均表现为听力损失、前节眼发育不良，以及大脑小血管疾病的严重程度非常不同。分子检测在这两个人中均记录到了 FOXC1 致病性变异的存在。我们的论文记录了 FOXC1 相关疾病成年个体中广泛的放射学白质受累。我们在个体 2 中观察到的 FOXC1 相关小血管病的轻度形式，应该被列入 MS 的遗传模拟物列表中。
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