Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

Chorea-Acanthocytosis (ChAc), a rare autosomal recessive inherited neurological disorder, originated from variants in ( ) gene. The main symptoms of ChAc contain hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated serum biochemical indicators, and acanthocytes...

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Bibliographic Details
Published in:Frontiers in neuroscience 2021-02, Vol.15, p.604715
Main Authors: Luo, Fang-Mei, Deng, Ming-Xing, Yu, Rong, Liu, Lv, Fan, Liang-Liang
Format: Article
Language:English
Subjects:
Bioinformatics
Blood
Case reports
CHAC
Chorea
chorea-acanthocytosis
Cognitive ability
Convulsions & seizures
Dehydrogenases
Deoxyribonucleic acid
Diagnosis
DNA
Electroencephalography
Epilepsy
Families & family life
Genes
Genetic screening
Hereditary diseases
homozygous variant
Kinases
Magnetic resonance imaging
Mutation
Neuroscience
Nonsense mutation
Patients
Peripheral blood
Phenotypes
Protein transport
Proteins
Seizures
VPS13A
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Summary:Chorea-Acanthocytosis (ChAc), a rare autosomal recessive inherited neurological disorder, originated from variants in ( ) gene. The main symptoms of ChAc contain hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated serum biochemical indicators, and acanthocytes detection in peripheral blood smear. Recently, researchers found that epilepsy may be a presenting and prominent symptom of ChAc. Here, we enrolled a consanguineous family with epilepsy and non-coordinated movement. Whole exome sequencing was employed to explore the genetic lesion of the family. After data filtering, co-separation analysis was performed by Sanger sequencing and bioinformatics analysis, the homozygous nonsense variant (NM_033305.2: c.8282C>G, p.S2761X) of were identified which could be genetic factor of the patient. No other meaningful mutations were detected. This mutation (p.S2761X) led to a truncated protein in exon 60 of the gene, was simultaneously absent in our 200 local control participants. The homozygous mutation (NM_033305.2: c.8282C>G, p.S2761X) of may be the first time be identified in ChAc patient with epilepsy. Our study assisted to the diagnosis of ChAc in this patient and contributed to the genetic diagnosis and counseling of families with ChAc presented as epilepsy. Moreover, we further indicated that epilepsy was a crucial phenotype in ChAc patients caused by mutations.
ISSN:1662-4548
1662-453X
1662-453X
DOI:10.3389/fnins.2021.604715