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Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations.

Joanne J van der VisJasper J van der SmagtAernoud A van BatenburgRoel GoldschmedingH Wouter van EsJan C GruttersColine H M van Moorsel
Published in: Respirology (Carlton, Vic.) (2021)
Our study shows that non-mutation carrying first-degree relatives in families with STS are at increased risk for pulmonary fibrosis. Disease development may be triggered by inherited short telomeres and additional risk factors for disease. This observation has profound consequences for genetic counselling. Unlike any other genetic syndrome, absence of the mutation does not imply absence of disease risk. Therefore, clinical follow-up is still urged for non-mutation carrying first-degree family members.
Keyphrases
  • pulmonary fibrosis
  • genome wide
  • gene expression
  • copy number
  • dna methylation