Chorea-acanthocytosis

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

doi:10.1212/NXG.0000000000000242

Chorea-acanthocytosis

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

Research output: Contribution to journal › Article

2 Scopus citations

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.

Original language	English (US)
Article number	e242
Journal	Neurology: Genetics
Volume	4
Issue number	3
DOIs	https://doi.org/10.1212/NXG.0000000000000242
State	Published - Jun 1 2018

ASJC Scopus subject areas

Clinical Neurology
Genetics(clinical)

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10.1212/NXG.0000000000000242

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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]. https://doi.org/10.1212/NXG.0000000000000242

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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.",

author = "Susan Walker and Rubina Dad and Bhooma Thiruvahindrapuram and Ullah, {Muhammed Ikram} and Arsalan Ahmad and Hassan, {Muhammad Jawad} and Scherer, {Stephen W.} and Minassian, {Berge A.}",

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AU - Walker, Susan

AU - Dad, Rubina

AU - Thiruvahindrapuram, Bhooma

AU - Ullah, Muhammed Ikram

AU - Ahmad, Arsalan

AU - Hassan, Muhammad Jawad

AU - Scherer, Stephen W.

AU - Minassian, Berge A.

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AB - 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.

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