The deleted fragments detected in patients 1 and 2 had six genes in common, including NLGN4X, VCX-A, PUDP, and PNPLA4, in addition to STS and ANOS1. GPR143 (OA1 gene), only identified as deleted in patient 1, has been linked to X-linked ocular albinism (OA1; OMIM 300500) (9). The gene discussed is PUDP; the disease is X-linked recessive ocular albinism.