Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings

Abstract

Abstract Pathogenic mutations in the FARSB gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozygous pathogenic missense variant, FARSB: NM_005687.4:c.853G > A:p.E285K in both affected patients. The parents were heterozygous for this variant.

Keywords

• aminoacyl‐tRNA synthetase
• brain calcification
• developmental delay
• FARSB