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.
N1 - Publisher Copyright:
© 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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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U2 - 10.1212/NXG.0000000000000242
DO - 10.1212/NXG.0000000000000242
M3 - Article
C2 - 29845114
AN - SCOPUS:85053872979
SN - 2376-7839
VL - 4
JO - Neurology: Genetics
JF - Neurology: Genetics
IS - 3
M1 - e242
ER -