Stickler syndrome has been associated with recessive variants in two non-collagen genes: one family with a homozygous variant in LOXL3 (ref. 14), which encodes an enzyme involved in collagen cross-linking and one family with a homozygous variant in LRP2 (ref. 15), encoding an endocytic transmembrane receptor. Here, LRP2 is linked to Stickler syndrome.