title: CTC1 Mutations in a patient with dyskeratosis congenita.
abstract: Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by mutations in seven genes involved in telomere biology, with approximately 50% of cases remaining genetically uncharacterized. We report a patient with classic DC carrying a compound heterozygous mutation in the CTC1 (conserved telomere maintenance component 1) gene, which has recently implicated in the pleiotropic syndrome Coats plus. This report confirms a molecular link between DC and Coats plus and expands the genotype-phenotype complexity observed in telomere-related genetic disorders.
authors.affiliation: Division of Hematology/Oncology, Stem Cell Program, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
authors.forename: Rachel B
authors.initials: RB
authors.lastname: Keller
authors.forename: Katelyn E
authors.initials: KE
authors.lastname: Gagne
authors.forename: G Naheed
authors.initials: GN
authors.lastname: Usmani
authors.forename: George K
authors.initials: GK
authors.lastname: Asdourian
authors.forename: David A
authors.initials: DA
authors.lastname: Williams
authors.forename: Inga
authors.initials: I
authors.lastname: Hofmann
authors.forename: Suneet
authors.initials: S
authors.lastname: Agarwal
mesh_terms: D000293:Adolescent; D019871:Dyskeratosis Congenita / Q000235:genetics*; D005260:Female; D005434:Flow Cytometry; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009154:Mutation / Q000235:genetics*; D058456:Retinal Telangiectasis / Q000235:genetics*; D016615:Telomere / Q000235:genetics; D034501:Telomere-Binding Proteins / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: C544945:Ctc1 protein, human; D034501:Telomere-Binding Proteins