The molecular genetics of the telomere biology disorders.

Abstract:

:The importance of telomere function for human health is exemplified by a collection of Mendelian disorders referred to as the telomere biology disorders (TBDs), telomeropathies, or syndromes of telomere shortening. Collectively, the TBDs cover a spectrum of conditions from multisystem disease presenting in infancy to isolated disease presentations in adulthood, most notably idiopathic pulmonary fibrosis. Eleven genes have been found mutated in the TBDs to date, each of which is linked to some aspect of telomere maintenance. This review summarizes the molecular defects that result from mutations in these genes, highlighting recent advances, including the addition of PARN to the TBD gene family and the discovery of heterozygous mutations in RTEL1 as a cause of familial pulmonary fibrosis.

journal_name

RNA Biol

journal_title

RNA biology

authors

Bertuch AA

doi

10.1080/15476286.2015.1094596

subject

Has Abstract

pub_date

2016-08-02 00:00:00

pages

696-706

issue

8

eissn

1547-6286

issn

1555-8584

journal_volume

13

pub_type

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