Your browser doesn't support javascript.
loading
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres.
Byrjalsen, Anna; Brainin, Anna Engell; Lund, Thomas Kromann; Andersen, Mette Klarskov; Jelsig, Anne Marie.
Afiliação
  • Byrjalsen A; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Blegdamsvej 9, 2100, Copenhagen East, Denmark. anna.byrjalsen@regionh.dk.
  • Brainin AE; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Blegdamsvej 9, 2100, Copenhagen East, Denmark.
  • Lund TK; Department of Cardiology, Section for Lung Transplantation, Rigshospitalet, University Hospital of Copenhagen, Blegdamsvej 9, Copenhagen East, 2100, Denmark.
  • Andersen MK; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Blegdamsvej 9, 2100, Copenhagen East, Denmark.
  • Jelsig AM; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Blegdamsvej 9, 2100, Copenhagen East, Denmark.
Hered Cancer Clin Pract ; 21(1): 7, 2023 May 15.
Article em En | MEDLINE | ID: mdl-37189188
The end of each chromosome consists of a DNA region termed the telomeres. The telomeres serve as a protective shield against degradation of the coding DNA sequence, as the DNA strand inevitably ‒ with each cell division ‒ is shortened. Inherited genetic variants cause telomere biology disorders when located in genes (e.g. DKC1, RTEL1, TERC, TERT) playing a role in the function and maintenance of the telomeres. Subsequently patients with telomere biology disorders associated with both too short or too long telomeres have been recognized. Patients with telomere biology disorders associated with short telomeres are at increased risk of dyskeratosis congenita (nail dystrophy, oral leukoplakia, and hyper- or hypo-pigmentation of the skin), pulmonary fibrosis, hematologic disease (ranging from cytopenia to leukemia) and in rare cases very severe multiorgan manifestations and early death. Patients with telomere biology disorders associated with too long telomeres have in recent years been found to confer an increased risk of melanoma and chronic lymphocytic leukemia. Despite this, many patients have an apparently isolated manifestation rendering telomere biology disorders most likely underdiagnosed. The complexity of telomere biology disorders and many causative genes makes it difficult to design a surveillance program which will ensure identification of early onset disease manifestation without overtreatment.
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hered Cancer Clin Pract Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Dinamarca

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hered Cancer Clin Pract Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Dinamarca