Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing. (June 2018)

• Record Type: Journal Article
• Authors: Walker, Susan; Dad, Rubina; Thiruvahindrapuram, Bhooma; Ullah, Muhammed Ikram; Ahmad, Arsalan; Hassan, Muhammad Jawad; Scherer, Stephen W.; Minassian, Berge A.
• Is Part Of: Neurology. Volume 4:Number 3(2018)
• Publication Date: 2018-06
• Subjects: Neurogenetics -- Periodicals; 616.80442
• DOI: 10.1212/NXG.0000000000000242
• Languages: English
• ISSNs: 2376-7839

Abstract

Abstract : Objective: To determine a molecular diagnosis for a large multigenerational family of South Asian ancestry with seizures, hyperactivity, and episodes of tongue biting. Methods: Two affected individuals from the family were analyzed by whole-genome sequencing on the Illumina HiSeq X platform, and rare variants were prioritized for interpretation with respect to the phenotype. Results: A previously undescribed, 1-kb homozygous deletion was identified in both individuals sequenced, which spanned 2 exons of the VPS13A gene, and was found to segregate in other family members. Conclusions: VPS13A is associated with autosomal recessive chorea-acanthocytosis, a diagnosis consistent with the phenotype observed in this family. Whole-genome sequencing presents a comprehensive and agnostic approach for detecting diagnostic mutations in families with rare neurologic disorders.