This is the first description of a BMP4 gene variant associated with a clinical phenotype of Stickler syndrome and is the first non-collagen sequence change found to be associated with dominant Stickler syndrome, although recessive Stickler or Stickler-like syndromes have been described in two other non-collagen genes, LOXL3 (ref. 14) and LRP2 (ref. 15). This evidence concerns the gene LRP2 and Stickler syndrome.