TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

• Published in: American journal of human genetics Vol. 82; no. 2; pp. 501 - 509
• Main Authors: Savage, Sharon A., Giri, Neelam, Baerlocher, Gabriela M., Orr, Nick, Lansdorp, Peter M., Alter, Blanche P.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.02.2008; University of Chicago Press; Elsevier
• Subjects: Adolescent; Adult; Base Sequence; Biological and medical sciences; Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 14 - genetics; Dermatology; Dyskeratosis Congenita - genetics; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Humans; Medical genetics; Medical sciences; Molecular and cellular biology; Molecular Sequence Data; Mutation - genetics; Pedigree; Pigmentary diseases of the skin; Sequence Analysis, DNA; Telomere - genetics; Telomere-Binding Proteins - genetics; Human; Skin disease; Pigmentation disorder; Stomatology; Hyperkeratosis; Dyskeratosis congenita; Genetics; Hemopathy; Complexes; Protection; Telomere; Genetic disease

Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but ∼60% of DC patients lack an identifiable mutation. With the very short t...