Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20.

ABSTRACT: Objective: The article aims to provide genetic counseling to a family with two children who were experiencing growth and developmental delays. Methods: Clinical information of the proband was collected. Peripheral blood was collected from core family members to identify the initial reason for growth and developmental delays by whole exome sequencing (WES) and Sanger sequencing. To ascertain the consequences of the newly discovered variants, details of the variants detected were analyzed by bioinformatic tools. Furthermore, we performed in vitro experimentation targeting SNX14 gene expression to confirm whether the variants could alter the expression of SNX14. Results: The proband had prenatal ultrasound findings that included flattened frontal bone

SUBMITTER: Shao Y 

PROVIDER: S-EPMC11035801 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature