{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Sargolzaeiaval F"],"funding":["JSPS KAKENHI","National Institute of Health","NCI NIH HHS"],"pagination":["1148-1156"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6305643"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6(6)"],"pubmed_abstract":["<h4>Background</h4>Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an autosomal recessive disorder caused by pathogenic variants of the conserved telomere maintenance component 1 (CTC1) gene. The CTC1 forms the telomeric capping complex, CST, which functions in telomere homeostasis and replication.<h4>Methods</h4>A Brazilian pedigree and an Australian pedigree were referred to the International Registry of Werner Syndrome (Seattle, WA, USA), with clinical features of accelerated aging and recurrent bone fractures. Whole exome sequencing was performed to identify the genetic causes.<h4>Results</h4>Whole exome sequencing of the Brazilian pedigree revealed compound heterozygous pathogenic variants in CTC1: a missense mutation (c.2959C>T, p.Arg987Trp) and a novel stop c"],"journal":["Molecular genetics & genomic medicine"],"pubmed_title":["CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures."],"pmcid":["PMC6305643"],"funding_grant_id":["R01CA210916","17H04037","R01 CA210916"],"pubmed_authors":["Sargolzaeiaval F","Dorschner M","Martin GM","Kubisch C","Sillence D","Lessel D","Zhang J","Precioso DR","Hisama FM","Schleit J","Oshima J"],"additional_accession":[]},"is_claimable":false,"name":"CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.","description":"<h4>Background</h4>Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an autosomal recessive disorder caused by pathogenic variants of the conserved telomere maintenance component 1 (CTC1) gene. The CTC1 forms the telomeric capping complex, CST, which functions in telomere homeostasis and replication.<h4>Methods</h4>A Brazilian pedigree and an Australian pedigree were referred to the International Registry of Werner Syndrome (Seattle, WA, USA), with clinical features of accelerated aging and recurrent bone fractures. Whole exome sequencing was performed to identify the genetic causes.<h4>Results</h4>Whole exome sequencing of the Brazilian pedigree revealed compound heterozygous pathogenic variants in CTC1: a missense mutation (c.2959C>T, p.Arg987Trp) and a novel stop c","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Nov","modification":"2026-05-06T01:03:06.869Z","creation":"2019-03-26T22:33:44Z"},"accession":"S-EPMC6305643","cross_references":{"pubmed":["30393977"],"doi":["10.1002/mgg3.495"]}}