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Review

Pulmonary Fibrosis Predisposition Overview

Christine Kim Garcia  1 , Janet L Talbert  2
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Pulmonary Fibrosis Predisposition Overview

Christine Kim Garcia et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of pulmonary fibrosis.

  2. 2

    Review genetic causes of pulmonary fibrosis.

  3. 3

    Review the differential diagnosis of pulmonary fibrosis.

  4. 4

    Provide an evaluation strategy to identify the genetic cause of pulmonary fibrosis in a proband.

  5. 5

    Review management of pulmonary fibrosis.

  6. 6

    Inform genetic counseling of family members of an individual with a genetic predisposition to pulmonary fibrosis.

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References

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    1. Alder JK, Parry EM, Yegnasubramanian S, Wagner CL, Lieblich LM, Auerbach R, Auerbach AD, Wheelan SJ, Armanios M. Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. Hum Mutat. 2013;34:1481-5. - PMC - PubMed
    1. Alder JK, Stanley SE, Wagner CL, Hamilton M, Hanumanthu VS, Armanios M. Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis. Chest. 2015;147:1361-8. - PMC - PubMed
    1. Armanios M. Syndromes of telomere shortening. Annu Rev Genomics Hum Genet. 2009;10:45-61. - PMC - PubMed
    1. Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A. 2005;102:15960-4. - PMC - PubMed

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