According to OMIM, almost all of our patients presented at least one variant in a gene with autosomal dominant inheritance (AD) (COL9A3, GLI2, FGF10, FLNA, EYA1, GLI3, HOXA13, NOTCH1, NOTCH2, PTPN11, RET, TGFB and WDR11), while other genes (CDH23, MYO7A and PPARGC1B) may have both AD and autosomal recessive (AR) inheritance. The gene discussed is TGFB1; the disease is Alzheimer disease.