BACKGROUND
• FAR1 is associated with an autosomal dominant (AD) disorder, first described in 2021 and characterized primarily by cataracts, spastic paraparesis, and speech delay.
• Other variable features include seizures, developmental delay, and intellectual disability.
• Almost all described individuals are in the pediatric age range, with oldest known individual being 19 years old.
• All known probands harbor a de novo variant resulting in a change in arginine at codon 480 to cysteine, histidine, or leucine.
• Heterozygous de novo variants cause gain-of-function in fatty acyl-CoA reductase resulting in elevated plasmalogen levels.
• FAR1 is also associated with autosomal recessive peroxisomal fatty acyl-CoA reductase-1 disorder, which has a partially overlapping phenotype.
