CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

Background Cerebroretinal microangiopathy with calcifications and cysts ( CRMCC ) is an autosomal recessive disorder caused by pathogenic variants of the conserved telomere maintenance component 1 ( CTC 1 ) gene. The CTC 1 forms the telomeric capping complex, CST , which functions in telomere homeostasis and replication. Methods A Brazilian pedigree and an Australian pedigree were referred to the International Registry of Werner Syndrome...