Also, mutations in human CTC1, the ortholog of CDC13, are found in a number of diseases associated with telomere defects (Coats plus, dyskeratosis congenita and CRMCC); however, no equivalent mutations in STN1 or TEN1 have yet been identified in the same cohorts of patients (Anderson et al., 2012; Polvi et al., 2012; Walne et al., 2012). The gene discussed is CTC1; the disease is Coats plus syndrome.