ArticleJournal of medical genetics1998
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and Treatment.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2024Review
- Telomere dysfunction in some pediatric congenital and growth-related diseases.Frontiers in pediatrics · 2023Review
- Chemical modifications to mRNA nucleobases impact translation elongation and termination.Biophysical chemistry · 2022Review
- Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita.Hematology/oncology clinics of North America · 2018Review
- Beginning at the ends: telomeres and human disease.F1000Research · 2018Review
- Molecular basis of telomere dysfunction in human genetic diseases.Nature structural & molecular biology · 2015Review
- Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.British journal of haematology · 2015Review
- mRNA deadenylation and telomere disease.The Journal of clinical investigation · 2015Article
- Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.Haematologica · 2012Article
- Dyskeratosis congenita as a disorder of telomere maintenance.Mutation research · 2012Review
- The genetics of dyskeratosis congenita.Cancer genetics · 2011Review
- X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.Journal of applied genetics · 2011Article
- Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita: report of a case.International journal of hematology · 2005Article
- X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.American journal of human genetics · 1999Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
Dyskeratosis congenita (DC) is a rare inherited disorder characterised by the early onset of reticulate skin pigmentation, nail dystrophy, and mucosal leucoplakia. In over 80% of cases bone marrow failure develops and this is the main cause of early mortality. The DC1 gene responsible for the X linked form (MIM 305000) of dyskeratosis congenita has been mapped to Xq28. In order to narrow the candidate gene region, genetic linkage analysis was performed in eight X linked pedigrees using a set of markers spanning Xq28. A maximum lod score of 5.31 with no recombinations was achieved with marker DXS1073. Two recombination events were identified; one of these uses X chromosome inactivation pattern analysis to determine carrier status and haplotype analysis to fine map the recombination breakpoint. The fine mapping of these recombination events has enabled the candidate gene region for X linked dyskeratosis congenita to be defined as the 1.4 Mb interval between Xq3274 and DXS1108.
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