Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.

IF 1.5 4区医学 Q4 GENETICS & HEREDITY Molecular Genetics & Genomic Medicine Pub Date : 2024-09-01 DOI:10.1002/mgg3.70015

Hao Yu, Ling Li, Xiaoyan Li, Haipeng Liu

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Abstract

Background: McLeod syndrome (MLS) and chorea-acanthocytosis (ChAc) are exceedingly rare diseases characterized by a variety of movement disorders including chorea, dystonia, and Parkinsonism. Genetic analysis plays a key role in early and accurate diagnosis, but relevant variants are still under investigation. This study aims to explore new pathogenic variants in Chinese patients with MLS and ChAc and to conduct a comprehensive analysis of the clinical heterogeneity among these patients.

Methods: Eighteen Chinese patients who presented with choreatic movements with negative HTT genetic testing were identified and underwent targeted next-generation sequencing, verified by Sanger sequencing.

Results: Two novel XK variants (c.970A>T, c.422_423del) were identified in three index MLS patients and six novel VPS13A variants (c.9219C>A, c.3467T>A, c.4208dup, c.9243_9246del, c.5364del, c.556-290_697-483del) in five index ChAc patients. One copy number variant of VPS13A (g.79827595_79828762del/c.556-290_697-483del) was firstly described in Chinese population.

Conclusion: As the currently largest descriptive study of MLS and ChAc patients in China, this study expands on the clinical and genetic spectrum of XK and VPS13A, contributing to the clinical diagnosis of MLS and ChAc.

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麦克劳德综合征和舞蹈症-黄细胞增多症中国患者的临床特征和新的致病变异。

背景：麦克劳德综合征（MLS）和舞蹈症-棘细胞增多症（ChAc）是极其罕见的疾病，以舞蹈症、肌张力障碍和帕金森病等多种运动障碍为特征。基因分析在早期准确诊断中起着关键作用，但相关变异仍在研究中。本研究旨在探索中国 MLS 和 ChAc 患者的新致病变异，并对这些患者的临床异质性进行全面分析：方法：对18例HTT基因检测阴性的胆汁淤积症中国患者进行靶向新一代测序，并通过Sanger测序进行验证：结果：在3例MLS患者中发现了2个新型XK变体（c.970A>T、c.422_423del），在5例ChAc患者中发现了6个新型VPS13A变体（c.9219C>A、c.3467T>A、c.4208dup、c.9243_9246del、c.5364del、c.556-290_697-483del）。VPS13A的一个拷贝数变异（g.79827595_79828762del/c.556-290_697-483del）首次在中国人群中发现：作为目前中国最大的 MLS 和 ChAc 患者的描述性研究，该研究扩展了 XK 和 VPS13A 的临床和遗传谱，有助于 MLS 和 ChAc 的临床诊断。

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.