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

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


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
Article numbere242
JournalNeurology: Genetics
Issue number3
Publication statusPublished - 1 Jun 2018
Externally publishedYes


Dive into the research topics of 'Chorea-acanthocytosis'. Together they form a unique fingerprint.

Cite this