BACKGROUND Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromuscular signs. It is caused by mutations in VPS13A gene with autosomal recessive pattern of inheritance. CASE PRESENTATION Here we report two patients belonging to a consanguineous Moroccan family who present with movement disorder pathology. They were suspected to have choreoacanthocytosis according to biological, clinical and radiological finding. Thus, whole-exome sequencing was performed for precise diagnosis and identified a homozygous novel nonsense mutation c.337C > T (p.Gln113*) in exon 5 of VPS13A in the two affected siblings. CONCLUSION Here, we report a novel nonsense p.Gln113* mutation in VPS13A identified by whole-exome sequencing, which caused ChAc in a Moroccan family. This is the first description of ChAc in Morocco with genetic confirmation, that expands the mutation diversity of VPS13A and provide clinical, neuroimaging and deep brain stimulation findings.

中文翻译：

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摩洛哥家族性胆囊细胞增多症的新型致病性VPS13A突变：1例病例报告。

背景技术胆囊吞噬作用（ChAc）是一种罕见的神经退行性疾病，其特征在于外周血涂片中的运动障碍和吞噬作用以及各种神经，神经精神病和神经肌肉体征。它是由具有常染色体隐性遗传模式的VPS13A基因突变引起的。病例介绍在这里，我们报告了两名来自近亲摩洛哥家庭的患者，他们均患有运动障碍病理。根据生物学，临床和放射学发现，他们被怀疑患有胆囊吞噬。因此，进行了全外显子测序以进行精确诊断，并在两个患病兄弟姐妹的VPS13A外显子5中鉴定了纯合的新型无意义突变c.337C> T（p.Gln113 *）。结论在这里，我们报告了一个新的废话p。通过全外显子组测序鉴定出VPS13A中的Gln113 *突变，该突变导致摩洛哥家庭出现ChAc。这是摩洛哥ChAc的首次遗传鉴定，它扩大了VPS13A的突变多样性，并提供了临床，神经影像学和深部脑刺激的发现。