Dyskeratosis Congenita: a historical perspective.
"Dyskeratosis Congenita (DC) also known as Zinsser-Engman-Cole syndrome is a rare multi-system bone marrow failure syndrome characterised by mucocutaneous abnormalities and an increased predisposition to cancer". This is a common definition of DC but how did this definition arise? The aim of this review is to follow the development of DC and associated diseases from its first reported description in the early 20th century to the current understanding of the genes involved and its pathophysiology in 2007 in a chronological order. Although this review is not intended to be an exhaustive citation of the literature available it does provide a summary of the key developments, citing particularly the earlier reports of each development.
Walne
Amanda J
AJ
Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine and Dentistry, The Blizard Building, 4 Newark Street, London E1 2AT, UK. a.walne@qmul.ac.uk
Dokal
Inderjeet
I
D043171:Chromosomal Instability; D019871:Dyskeratosis Congenita / Q000235:genetics / Q000266:history* / Q000473:pathology; D005808:Genes, Recessive; D006402:Hematologic Diseases / Q000175:diagnosis / Q000235:genetics; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D009154:Mutation; D012313:RNA / Q000235:genetics; D012042:Registries; D013577:Syndrome; D019098:Telomerase / Q000737:chemistry / Q000235:genetics; D016615:Telomere / Q000378:metabolism
C422952:telomerase RNA; D012313:RNA; D019098:Telomerase