Genetic Epilepsy

Gene: AARS

PMID: 33909043 - Botta et al 2021 - using WES or WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified 2 unrelated cases carrying 4 potentially pathogenic variants in the AARS1 gene (previously known as AARSB. Both patients had very rare compound heterozygous missense variants. In one family there was an older affected sibling but segregation data was not available for either family. Functional studies suggest that the variants affects gene product stability.

Created: 7 Oct 2021, 11:18 a.m. | Last Modified: 7 Oct 2021, 12:09 p.m.

Panel Version: 0.9347

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
trichothiodystrophy, MONDO:0018053

Publications

• 33909043

Green List (high evidence)

Bi-allelic variants associated with a severe phenotype comprising leukodystrophy, epilepsy, microcephaly and neurodevelopmental delay reported in three families.

Created: 29 Aug 2020, 4:36 a.m. | Last Modified: 29 Aug 2020, 4:36 a.m.

Panel Version: 0.822

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 29, MIM# 616339

Publications

• 28493438
• 25817015