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2016 ; 13
(8
): 696-706
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The molecular genetics of the telomere biology disorders
#MMPMID26400640
Bertuch AA
RNA Biol
2016[Aug]; 13
(8
): 696-706
PMID26400640
show ga
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.
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