Pulmonary fibrosis and/or bone marrow failure, telomere-related

Definition:

Pulmonary fibrosis and/or bone marrow failure, telomere-related (PFBMFT) is also known as human telomere biology disorders, or short telomere syndromes. PFBMFT is a group of hereditary disorders caused by inherited loss-of-function mutations in telomere associated genes. It has a wide phenotypic spectrum that include bone marrow failure, pulmonary and liver fibrosis, mucocutaneous fragility, and predisposition to myelodysplastic syndromes and cancer.

References:

[1]. Bridget D Stuart, et al. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet. 2015 May;47(5):512-7. [Content Brief]

[2]. Dustin L Gable, et al. ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation. Genes Dev. 2019 Oct 1;33(19-20):1381-1396. [Content Brief]

[3]. John M Gansner, et al. Pulmonary fibrosis, bone marrow failure, and telomerase mutation. N Engl J Med. 2012 Apr 19;366(16):1551-3. [Content Brief]

[4]. Richa Sharma, et al. Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood. 2022 Feb 17;139(7):1039-1051. [Content Brief]

[5]. Tom Vulliamy, et al. Association between aplastic anaemia and mutations in telomerase RNA. Lancet. 2002 Jun 22;359(9324):2168-70. [Content Brief]

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