Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1

Abstract

FAR1 (MIM *616107) is required for the reduction of fatty acyl CoAs to fatty alcohols which is important for plasmalogen biosynthesis. Recently, heterozygous de novo variants in FAR1 have been associated with cataracts, spastic paraparesis, and speech delay (MIM# 619338). Three different heterozygous de novo variants, all located in the same codon, causing substitution of arginine at position 480 into cysteine, histidine, or leucine, were reported in patients in the latter disorder.Here, authors have identified a novel substitution in the same Arg480 position into serine. The authors also provide in silico docking analysis of the mutant protein.

Keywords: Autosomal dominant; Exome sequencing; FAR1; Fatty acyl-CoA reductase 1; Spasticity; de novo.