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

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.

SUBMITTER: Walker S

PROVIDER: S-EPMC5961193 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Chorea-acanthocytosis: Homozygous 1-kb deletion in <i>VPS13A</i> detected by whole-genome sequencing.

Walker Susan S Dad Rubina R Thiruvahindrapuram Bhooma B Ullah Muhammed Ikram MI Ahmad Arsalan A Hassan Muhammad Jawad MJ Scherer Stephen W SW Minassian Berge A BA

Neurology. Genetics 20180518 3

<h4>Objective</h4>To determine a molecular diagnosis for a large multigenerational family of South Asian ancestry with seizures, hyperactivity, and episodes of tongue biting.<h4>Methods</h4>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.<h4>Results</h4>A previously undescribed, 1-kb homozygous deletion was identified in both individuals sequence ...[more]

PMID: 29845114

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