Fig. 3

Schematic representation of the inheritance pattern of the identified mutations in RP1, highlighting the concept of rs118031911/T-mediated quasi-Mendelian inheritance of HRDs. a In trans with respect to the Alu element insertion (m1, or c.4052_4053ins328/p.Tyr1352Alafs*9), m3 (rs118031911/T, or c.5797C>T/p.Arg1933*) results in autosomal recessive inheritance of the disease, similar to m1 in a homozygous state or in a compound heterozygous combination with m2 (c.4196del/p.Cys1399Leufs*5). b Combinations of the hypomorphic m3 allele with additional hypomorphs and/or heterozygous recessive alleles in other genes result in disease following a non-Mendelian pattern, whereas (c) homozygosis for m3 has no pathological consequences. d Structure of RP1: exons are represented by boxes, connected by solid lines (introns). The relative positions of m1, m2, and m3 are also indicated