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Telomeropathies: Etiology, diagnosis, treatment and follow‐up. Ethical and legal considerations
Author(s) -
Armando Romina G.,
Mengual Gomez Diego L.,
Maggio Julián,
Sanmartin María C.,
Gomez Daniel E.
Publication year - 2019
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13526
Subject(s) - etiology , medicine , intensive care medicine , mechanism (biology) , bioinformatics , pediatrics , biology , philosophy , epistemology
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.