Abstract Details

Title ANO3 Mutations in Chinese Dystonia: a Genetic Screening Study Using Next-Generation Sequencing

Topic Movement Disorders

Presentation(s) P15 - Poster Session 15 (12:00 PM-1:00 PM)

Poster/Presentation
Number 3-011

Objective To screen and identify ANO3 mutations in a cohort of dystonia patients in China and expand spectrum of DYT24

Background

Dystonia24 (DYT24) is a monogenic autosomal dominant dystonia caused by ANO3 mutation, which has shown phenotypic and genotypic heterogeneity according to previous reports.

Design/Methods This study screened ANO3 mutations in 191 Chinese dystonia patients using next-generation sequencing (NGS). In Silico Investigations were conducted in detected ANO3 variants and co-segregation analysis were carried out if applicable. The effects of identified variants were classified according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines.

Results

Four different variants were identified in four unrelated dystonia patients, including three missense variants c.1789G>C(p.V600L), c.182A>C(p.E61A), c.787A>G(p.M263V) and one splice site change c.1714-3T>C. Among them, the novel missense mutation c.1798G>C(p.V600L) identified in the teenager girl with dystonia in bilateral legs and hands showed high pathogenicity and was classified “likely pathogenetic” according to ACMG guideline. Of note, she responded well to DBS surgery.

Conclusions Our study helps expand the mutational and clinical spectrum of DYT24 due to ANO3 mutations in dystonia by further reporting four variants. Rare ANO3 variants appear to represent an uncommon cause of dystonia in China.

Authors/Disclosures
Shanglin Li, MD (Tsinghua University First Hospital) PRESENTER	No disclosure on file
	No disclosure on file
Yingmai Yang	No disclosure on file
	No disclosure on file
Xinhua Wan (Beijing Union Medical College Hospital)	No disclosure on file

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Abstract Details