FBRSL1, together with its paralogous AUTS2 (Autism Susceptibility Candidate) and Fibrosin, belongs to the AUTS2 protein family. Differently spliced FBRSL1 isoforms have been described including long isoforms and two short N-terminal isoforms containing an alternative exon 3 with a premature stop codon (NM_001382741.1, 66kDa; NM_001382742.1, 55kDa). To date, all reported patients with the FBRSL1-associated syndrome have a truncating variant in the N-terminal region of the gene, which affects the short isoforms. The pathogenic variants were identified in a heterozygous state and occurred de novo.
FBRSL1