Pathogenic variants in FBRSL1 are inherited in an autosomal dominant manner. Autosomal dominant means that each gene – except those located on the sex chromosomes – exists in two copies (alleles), one inherited from the mother and one from the father. In autosomal dominant conditions, symptoms arise when just one of these two alleles carries a pathogenic variant. As a result, there is a 50% risk that the condition will be passed on to a child of an affected parent. To date, only four patients with the FBRSL1-associated syndrome have been described and in all cases the pathogenic variant occurred de novo. In cases with a de novo occurrence the recurrence risk for future pregnancies is suggested to be around 1%.
FBRSL1