[Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(5): 558-562, 2023 May 10.
Article
em Zh
| MEDLINE
| ID: mdl-37102289
ABSTRACT
OBJECTIVE:
To explore the clinical feature and genetic variant of a child with autosomal recessive Charlevoix-Saguenay type spastic ataxia (ARSACS).METHODS:
Clinical data of a child who was admitted to the West China Second Hospital of Sichuan University on April 30, 2021 was collected. Whole exome sequencing (WES) was carried out for the child and his parents. Candidate variants were verified by Sanger sequencing and bioinformatic analysis based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).RESULTS:
The child, a 3-year-and-3-month-old female, had a complain of "walking instability for over a year". Physical and laboratory examination revealed progressive and aggravated gait instability, increased muscle tone of the right limbs, peripheral neuropathy of the lower limbs, and thickening of retinal nerve fiber layer. The results of WES revealed that she has harbored a maternally derived heterozygous deletion of exons 1 to 10 of the SACS gene, in addition with a de novo heterozygous c.3328dupA variant in exon 10 of the SACS gene. Based on the ACMG guidelines, the exons 1-10 deletion was rated as likely pathogenic (PVS1+PM2_Supporting), and the c.3328dupA was rated as a pathogenic variant (PVS1_Strong+PS2+PM2_Supporting). Neither variant was recorded in the human population databases.CONCLUSION:
The c.3328dupA variant and the deletion of exons 1-10 of the SACS gene probably underlay the ARSACS in this patient.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxias Espinocerebelares
/
Proteínas de Choque Térmico
Tipo de estudo:
Guideline
Limite:
Child, preschool
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Female
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Humans
Idioma:
Zh
Ano de publicação:
2023
Tipo de documento:
Article