While recurrent germline and somatic mutations (including in RB1, TP53, and ATRX)8–15 and unbalanced chromosomal rearrangements (including allele loss on 3q, 13q, 17p, and 18q)16,17, have been identified, there is no characteristic OSA translocation and significant genetic heterogeneity exists, posing a challenge with respect to diagnosis and identification of treatment targets. Here, RB1 is linked to obstructive sleep apnea syndrome.