To date, in the literature, a total of 23 mutations are described in the FBN1 gene in patients with GD or AD (Le Goff et al., 2011; Lee et al., 2013; Wang et al., 2014, 2020; Jin et al., 2017; Globa et al., 2018; Sun et al., 2020). The gene discussed is FBN1; the disease is Alzheimer disease.