Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review.

ABSTRACT:

Background

Aminoacyl-tRNA synthetases (ARSs) are indispensable enzymes for protein biosynthesis in cells. The phenylalanyl-tRNA synthetase (FARS1) located in cytoplasm which consists of two FARS alpha subunits (FARSA) and two FARS beta subunits (FARSB). Autosomal recessive inheritance of pathogenic variants of FARSA or FARSB can result in defective FARS1 which are characterized by interstitial lung disease, liver disease, brain abnormalities, facial dysmorphism and growth restriction.

Methods

Exome sequencing was used to detect the candidate variants. The in silico prediction and expressional level analysis were performed to evaluate the pathogenicity of the variations. Additionally, we presented the patient's detailed clinical information and compared the clinical feature w

SUBMITTER: Guo R 

PROVIDER: S-EPMC10571242 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature