PSEN1 and Alzheimer disease: We also detected in an AD-EOAD family a novel genomic in-frame deletion encompassing PSEN1 exons 9 and 10: c.(868+1_869–1)_(1129+1_1130–1)del, p.Ser290_Arg1129delinsTrp, thereafter named Δ9–10, which resulted in a missense change from serine to tryptophan at the aberrant exon 8–11 junction (Table 1).