Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing

Neurology. Genetics
Susan WalkerBerge A Minassian

Abstract

To determine a molecular diagnosis for a large multigenerational family of South Asian ancestry with seizures, hyperactivity, and episodes of tongue biting. 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. 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. 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.

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Methods Mentioned

BETA
exome sequencing
gene panel

Software Mentioned

Isaac
PLINK
Isaac Variant Caller
Illumina HiSeq Analysis

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