Gene/disorder under study
OMIM # 616107 , Peroxisomal fatty acyl-CoA reductase 1 disorder OMIM # 61615
Abstract
Peroxisomal fatty acyl-CoA reductase-1 disorder (PFCRD) is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. Since 2014 only a handful families have been reported with limited in vitro functional expression studies showing loss of enzymatic activity and decreased plasmalogens. We are interested to delineate the full phenotypic spectrum and expand on the genetic spectrum. Therefore, we seek to identify additional cases with bi-allelic FAR1 variants (uncertain significance, likely pathogenic, or pathogenic) to further characterize the clinical and genetic spectrum of FAR1-associated neurodevelopmental disorder.
Coordinating clinician
Dr Stephanie Efthymiou – s.efthymiou@ucl.ac.uk
Institution
Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes