,32,33,34 For example, Lis1 plays a role in lissencephaly, TCOF1 is associated with Treacher Collins Syndrome (TCS), and TBL1X participates in Ocular Albinism with late-onset sensorineural deafness (OASD). The gene discussed is PAFAH1B1; the disease is ocular albinism with late-onset sensorineural deafness.