PRPF31 and Alzheimer disease: Sanger sequencing indicated his CVD was caused by a hemizygous CNV (exon 3–5 del) in OPN1LW. In 3 AD cases (Fig. 4, P07, P14, P30), Family P07 had a heterozygous CNV (exon 2–3 del) in PRPF31, the inheritance mode was AD.