Telomeropathies: Etiology, diagnosis, treatment and follow-up. Ethical and legal considerations.

Autor: Armando RG; Laboratory of Molecular Oncology, Universidad Nacional de Quilmes, Buenos Aires, Argentina., Mengual Gomez DL; Laboratory of Molecular Oncology, Universidad Nacional de Quilmes, Buenos Aires, Argentina., Maggio J; Laboratory of Molecular Oncology, Universidad Nacional de Quilmes, Buenos Aires, Argentina., Sanmartin MC; Laboratory of Molecular Oncology, Universidad Nacional de Quilmes, Buenos Aires, Argentina., Gomez DE; Laboratory of Molecular Oncology, Universidad Nacional de Quilmes, Buenos Aires, Argentina.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2019 Jul; Vol. 96 (1), pp. 3-16. Date of Electronic Publication: 2019 Mar 25.
DOI: 10.1111/cge.13526
Abstrakt: Telomeropathies involve a wide variety of infrequent genetic diseases caused by mutations in the telomerase maintenance mechanism or the DNA damage response (DDR) system. They are considered a family of rare diseases that often share causes, molecular mechanisms and symptoms. Generally, these diseases are not diagnosed until the symptoms are advanced, diminishing the survival time of patients. Although several related syndromes may still be unrecognized this work describes those that are known, highlighting that because they are rare diseases, physicians should be trained in their early diagnosis. The etiology and diagnosis are discussed for each telomeropathy and the treatments when available, along with a new classification of this group of diseases. Ethical and legal issues related to this group of diseases are also considered.
(© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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