Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc)

Ghodsinezhad, Vadieh; Ghoreishi, Abdoreza; Rohani, Mohammad; Dadfar, Mahdi; Mohammadzadeh, Akbar; Rostami, Ali; Rahimi, Hamzeh

doi:10.1007/s00438-024-02111-y

Mol Genet Genomics

2024

DOI: 10.1007/s00438-024-02111-y

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Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc)

Vadieh Ghodsinezhad,

Abdoreza Ghoreishi,

Mohammad Rohani

et al.

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

Yu,

Li,

et al. 2024

Molec Gen & Gen Med

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BackgroundMcLeod 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.MethodsEighteen Chinese patients who presented with choreatic movements with negative HTT genetic testing were identified and underwent targeted next‐generation sequencing, verified by Sanger sequencing.ResultsTwo 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.ConclusionAs 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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Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea‐Acanthocytosis

Yu,

Li,

et al. 2024

Molec Gen & Gen Med

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show abstract

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Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc)

Cited by 1 publication

References 31 publications

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

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

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