Cataract

Gene: FAR1

Green List (high evidence)

Note bi-allelic disorder Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 also has cataracts as a feature, in addition to ID and spasticity/microcephaly/seizures. Two families reported for bi-allelic disorder.

Created: 14 Apr 2021, 7:34 a.m. | Last Modified: 14 Apr 2021, 7:34 a.m.

Panel Version: 0.271

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154; Cataracts, spastic paraparesis, and speech delay, MIM#619338

Publications

• 25439727

Green List (high evidence)

12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.
Sources: Literature

Created: 14 Apr 2021, 7:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
spastic paraparesis and bilateral cataracts

Publications

• PMID: 33239752