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 journalArticle

1 Citation (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 languageEnglish (US)
Article numbere242
JournalNeurology: Genetics
Volume4
Issue number3
DOIs
StatePublished - Jun 1 2018

Fingerprint

Neuroacanthocytosis
Genome
Phenotype
Nervous System Diseases
Tongue
Exons
Seizures
Mutation
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

Cite this

Walker, S., Dad, R., Thiruvahindrapuram, B., Ullah, M. I., Ahmad, A., Hassan, M. J., ... Minassian, B. A. (2018). Chorea-acanthocytosis. Neurology: Genetics, 4(3), [e242]. https://doi.org/10.1212/NXG.0000000000000242

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

In: Neurology: Genetics, Vol. 4, No. 3, e242, 01.06.2018.

Research output: Contribution to journalArticle

Walker, S, Dad, R, Thiruvahindrapuram, B, Ullah, MI, Ahmad, A, Hassan, MJ, Scherer, SW & Minassian, BA 2018, 'Chorea-acanthocytosis', Neurology: Genetics, vol. 4, no. 3, e242. https://doi.org/10.1212/NXG.0000000000000242
Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ et al. Chorea-acanthocytosis. Neurology: Genetics. 2018 Jun 1;4(3). e242. https://doi.org/10.1212/NXG.0000000000000242
Walker, Susan ; Dad, Rubina ; Thiruvahindrapuram, Bhooma ; Ullah, Muhammed Ikram ; Ahmad, Arsalan ; Hassan, Muhammad Jawad ; Scherer, Stephen W. ; Minassian, Berge A. / Chorea-acanthocytosis. In: Neurology: Genetics. 2018 ; Vol. 4, No. 3.
@article{d0082bd08a7e4d1dabf50f49e24a2658,
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.}",
year = "2018",
month = "6",
day = "1",
doi = "10.1212/NXG.0000000000000242",
language = "English (US)",
volume = "4",
journal = "Neurology: Genetics",
issn = "2376-7839",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

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.

UR - http://www.scopus.com/inward/record.url?scp=85053872979&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85053872979&partnerID=8YFLogxK

U2 - 10.1212/NXG.0000000000000242

DO - 10.1212/NXG.0000000000000242

M3 - Article

C2 - 29845114

AN - SCOPUS:85053872979

VL - 4

JO - Neurology: Genetics

JF - Neurology: Genetics

SN - 2376-7839

IS - 3

M1 - e242

ER -