ArticleAmerican journal of human genetics1999
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers.
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Who cites it
112 citing papers in PubMed, 261 citations in OpenAlex.
- Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.American journal of hematology · 2016Trial
- Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.International journal of hematology · 2015Trial
- Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation.NPJ genomic medicine · 2026Article
- Early-Onset Mucocutaneous Findings and Isolated Progressive Thrombocytopenia in a Child With a DKC1 A353V Variant.Clinical case reports · 2026Article
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
- Mechanistic insight into the pseudouridylation of RNA.RNA biology · 2025Review
- Review
- Review
- Hematological complications in solid organ transplant recipients with telomere biology disorders: a narrative review.Frontiers in immunology · 2025Review
- Deciphering the pseudouridine nucleobase modification in human diseases: From molecular mechanisms to clinical perspectives.Clinical and translational medicine · 2025Review
- RIOK2 transcriptionally regulates TRiC and dyskerin complexes to prevent telomere shortening.Nature communications · 2024Article
- Decoding the 'Fifth' Nucleotide: Impact of RNA Pseudouridylation on Gene Expression and Human Disease.Molecular biotechnology · 2024Review
- Telomere length and cancer risk: finding Goldilocks.Biogerontology · 2024Review
- The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.Human molecular genetics · 2024Article
- Telomeres: Dysfunction, Maintenance, Aging and Cancer.Aging and disease · 2023Review
- Depletion ofInternational journal of molecular sciences · 2023Article
- H/ACA snRNP-dependent ribosome biogenesis regulates translation of polyglutamine proteins.Science advances · 2023Article
- The importance of pseudouridylation: human disorders related to the fifth nucleoside.Biologia futura · 2023Review
- Article
- A de novo TINF2, R282C Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing.Iranian biomedical journal · 2023Article
52 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-linked form of the disease (MIM 305000) has been shown to be caused by mutations in the DKC1 gene. The gene encodes a 514-amino-acid protein, dyskerin, that is homologous to Saccharomyces cerevisiae Cbf5p and rat Nap57 proteins. By analogy to the homologues in other species, dyskerin is predicted to be a nucleolar protein with a role in both the biogenesis of ribosomes and, in particular, the pseudouridylation of rRNA precursors. We have determined the genomic structure of the DKC1 gene; it consists of 15 exons spanning a region of 15 kb. This has enabled us to screen for mutations in the genomic DNA, by using SSCP analysis. Mutations were detected in 21 of 37 additional families with dyskeratosis congenita that were analyzed. These mutations consisted of 11 different single-nucleotide substitutions, which resulted in 10 missense mutations and 1 putative splicing mutation within an intron. The missense change A353V was observed in 10 different families and was shown to be a recurring de novo event. Two polymorphisms were also detected, one of which resulted in the insertion of an additional lysine in the carboxy-terminal polylysine domain. It is apparent that X-linked dyskeratosis congenita is predominantly caused by missense mutations; the precise effect on the function of dyskerin remains to be determined.
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