Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage.

ABSTRACT:

Background

NARS2 encodes mitochondrial Asparaginyl-tRNA Synthetase 2, which catalyzes the aminoacylation of tRNA-Asn in the mitochondria. To date, 24 variants have been reported in NARS2 gene in 35 patients. The phenotypic variability of NARS2-associated disorder is broad, ranging from neurodevelopmental disorders to hearing loss. In this study, we report some novel imaging findings in an Iranian patient suffering from epileptic encephalopathy, caused by a previously reported variant, c.500A > G; p.(His167Arg), in NARS2.

Methods

The spectrum of clinical manifestations of two Iranian patients was investigated and genetic analysis was performed by Whole-exome sequencing (WES). Additionally, we also reviewed the literature and summarized the phenotypes of previously reported pa

SUBMITTER: Khodaeian M 

PROVIDER: S-EPMC10749492 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature