Nevertheless, as discussed by Laugel (2013),the large prevalence of type I CS clinical classification (moderate phenotype) isnoted in CSA patients, with most of the mutations located in the WD domains.Regarding CSB, mutations are predominant among the domains (such as domains III andIV, for example) and are mostly nonsense mutations and frameshifts, with lowerprevalence of missense mutations and deletions. The gene discussed is ERCC6; the disease is Cowden syndrome 1.