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 › peer-review

4 Citations (Scopus)

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
Article number	e242
Journal	Neurology: Genetics
Volume	4
Issue number	3
DOIs	https://doi.org/10.1212/NXG.0000000000000242
Publication status	Published - 1 Jun 2018
Externally published	Yes

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title = "Chorea-acanthocytosis",

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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year = "2018",

month = jun,

day = "1",

doi = "10.1212/NXG.0000000000000242",

language = "English",

volume = "4",

journal = "Neurology: Genetics",

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TY - JOUR

T1 - Chorea-acanthocytosis

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.

PY - 2018/6/1

Y1 - 2018/6/1

N2 - 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.

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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DO - 10.1212/NXG.0000000000000242

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SN - 2376-7839

VL - 4

JO - Neurology: Genetics

JF - Neurology: Genetics

IS - 3

M1 - e242

ER -

Chorea-acanthocytosis

Abstract

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