SIX1 and congenital rubella syndrome: SIX1 variants, including p.R110W, were previously reported in individuals with BOS/BOR syndromes (dominantly inherited disorders characterised by variable hearing impairment, preauricular pits, branchial defects±kidney malformations) or non-syndromic HL (figure 1C).3–5 No additional candidate variants were identified to explain the CRS in proband 7081, who retrospectively was noted to manifest additional features of BOS, including bilateral preauricular skin tags, ear pits and a possible sinus over the right sternocleidomastoid (see online supplemental case report).