Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian

Research output: Contribution to journalArticle

2 Scopus citations


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.

Original languageEnglish (US)
Article numbere242
JournalNeurology: Genetics
Issue number3
StatePublished - Jun 1 2018

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

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    Walker, S., Dad, R., Thiruvahindrapuram, B., Ullah, M. I., Ahmad, A., Hassan, M. J., Scherer, S. W., & Minassian, B. A. (2018). Chorea-acanthocytosis. Neurology: Genetics, 4(3), [e242].