Affected males showed the classic mucocutaneous features of DC and died prematurely from pulmonary fibrosis. A four generation family with pulmonary fibrosis and features of DC was identified. However, mutations in DKC1 are identifiable in only half of X-linked DC families.
An X-linked form of DC is caused by mutations in DKC1 which encodes dyskerin, a telomerase component that is essential for telomerase RNA stability. Correspondence to Dr Mary Armanios, Department of Oncology, Johns Hopkins University School of Medicine, 1650 Orleans St., CRB 186, Baltimore, MD 21287, USA ĭyskeratosis congenita (DC) is a premature ageing syndrome characterised by short telomeres.7McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine Baltimore, Maryland, USA.6Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland, USA.5Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.4Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.3Pre-doctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine Baltimore, Maryland, USA.2Medical Scientist Training Progra, Johns Hopkins University School of Medicine Baltimore, Maryland, USA.1Department of Oncology and Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine Baltimore, Maryland, USA.
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