两个不相关病例中foxc1相关疾病的白质异常谱

IF 2.8 3区医学 Q2 GENETICS & HEREDITY

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-05-31 DOI:10.1002/ajmg.c.32051

Tasnim Tabassum, D'Agostino Maria Daniela, Roberta La Piana

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引用次数: 0

摘要

本研究的目的是记录与FOXC1致病性变体相关的广泛白质异常。我们报告了两名成年患者——一名60岁的患者和一名24岁的患者，他们表现为听力损失、眼前节发育不全和严重程度截然不同的大脑小血管疾病。分子检测记录了FOXC1致病性变体在两个个体中的存在。我们的论文记录了患有FOXC1相关疾病的成年个体中广泛的放射性白质受累。正如我们在个体2中观察到的，轻度FOXC1相关的小血管疾病应包括在MS的遗传拟态者列表中。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Spectrum of white matter abnormalities associated with FOXC1-related disorders in two unrelated cases

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Spectrum of white matter abnormalities associated with FOXC1-related disorders in two unrelated cases

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.

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来源期刊

American Journal of Medical Genetics Part C: Seminars in Medical Genetics 医学-遗传学

CiteScore

7.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.