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Telomere syndrome

MedGen UID:
1668986
•Concept ID:
C4727832
•
Disease or Syndrome
Synonyms: short telomere syndrome; STS; Telomere Disease; Telomere Syndrome; telomere syndrome
 
Monarch Initiative: MONDO:0100137

Definition

A group of disorders caused by mutation(s) that disrupt the maintenance of telomeres, resulting in the short telomere defect. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTelomere syndrome

Professional guidelines

PubMed

Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders.
Ongie L, Raj HA, Stevens KB
Curr Hematol Malig Rep 2023 Dec;18(6):273-283. Epub 2023 Oct 3 doi: 10.1007/s11899-023-00713-8. PMID: 37787873
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.
Manali ED, Kannengiesser C, Borie R, Ba I, Bouros D, Markopoulou A, Antoniou K, Kolilekas L, Papaioannou AI, Tzilas V, Tzouvelekis A, Daniil Z, Fouka E, Papakosta D, Xyfteri A, Karakatsani A, Loukides S, Korbila I, Tomos IP, Konstantinidis AK, Gogali A, Steiropoulos P, Papanikolaou IC, Bazaka C, Haritou A, Vassilakopoulos T, Maniati M, Kagouridis K, Markozannes E, Bouros E, Rampiadou C, Kounti G, Trachalaki A, Dimeas I, Karampitsakos T, Lyberopoulos P, Malamadakis N, Spyropoulou S, Revy P, Lainey E, Dieudé P, Rebah K, Ménard C, Oudin C, Masson C, Plessier A, Legendre M, Nathan N, Coulomb-L'Hermine A, Clement A, Amselem S, Boileau C, Crestani B, Papiris S; Greek Group of ILD Investigators
Respiration 2022;101(6):531-543. Epub 2022 Jan 25 doi: 10.1159/000520657. PMID: 35078193

Recent clinical studies

Etiology

Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders.
Ongie L, Raj HA, Stevens KB
Curr Hematol Malig Rep 2023 Dec;18(6):273-283. Epub 2023 Oct 3 doi: 10.1007/s11899-023-00713-8. PMID: 37787873
Familial Clonal Hematopoiesis in a Long Telomere Syndrome.
DeBoy EA, Tassia MG, Schratz KE, Yan SM, Cosner ZL, McNally EJ, Gable DL, Xiang Z, Lombard DB, Antonarakis ES, Gocke CD, McCoy RC, Armanios M
N Engl J Med 2023 Jun 29;388(26):2422-2433. Epub 2023 May 4 doi: 10.1056/NEJMoa2300503. PMID: 37140166Free PMC Article
Telomere Dysfunction Activates p53 and Represses HNF4α Expression Leading to Impaired Human Hepatocyte Development and Function.
Munroe M, Niero EL, Fok WC, Vessoni AT, Jeong HC, Brenner KA, Batista LFZ
Hepatology 2020 Oct;72(4):1412-1429. Epub 2020 Aug 26 doi: 10.1002/hep.31414. PMID: 32516515Free PMC Article
Long telomeres and cancer risk: the price of cellular immortality.
McNally EJ, Luncsford PJ, Armanios M
J Clin Invest 2019 Aug 5;129(9):3474-3481. doi: 10.1172/JCI120851. PMID: 31380804Free PMC Article
Human telomere biology: A contributory and interactive factor in aging, disease risks, and protection.
Blackburn EH, Epel ES, Lin J
Science 2015 Dec 4;350(6265):1193-8. doi: 10.1126/science.aab3389. PMID: 26785477

Diagnosis

Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders.
Ongie L, Raj HA, Stevens KB
Curr Hematol Malig Rep 2023 Dec;18(6):273-283. Epub 2023 Oct 3 doi: 10.1007/s11899-023-00713-8. PMID: 37787873
Short Telomere Syndrome presenting with pulmonary fibrosis, liver cirrhosis and hepatopulmonary syndrome: a case report.
Baird A, Gomes M, Souza CA, Magner K, Alvarez G
BMC Pulm Med 2023 Apr 11;23(1):114. doi: 10.1186/s12890-023-02378-8. PMID: 37041499Free PMC Article
Short Telomeres: Cause and Consequence in Liver Disease.
Penrice DD, Simonetto DA
Semin Liver Dis 2020 Nov;40(4):385-391. Epub 2020 Jun 11 doi: 10.1055/s-0040-1713007. PMID: 32526789
Cancer and myeloid clonal evolution in the short telomere syndromes.
Schratz KE, Armanios M
Curr Opin Genet Dev 2020 Feb;60:112-118. Epub 2020 Apr 7 doi: 10.1016/j.gde.2020.02.019. PMID: 32276199Free PMC Article
The wide-ranging clinical implications of the short telomere syndromes.
Barbaro PM, Ziegler DS, Reddel RR
Intern Med J 2016 Apr;46(4):393-403. doi: 10.1111/imj.12868. PMID: 26247919

Therapy

Non-myeloablative umbilical cord blood transplantation for atypical dyskeratosis congenita.
Gibson A, Ragoonanan D, Tewari P, Petropoulos D, Rodriguez N, DiNardo C, Mahadeo KM, Khazal S
Pediatr Transplant 2022 Mar;26(2):e14157. Epub 2021 Oct 8 doi: 10.1111/petr.14157. PMID: 34626046
Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis.
Gaysinskaya V, Stanley SE, Adam S, Armanios M
Chest 2020 Dec;158(6):2449-2457. Epub 2020 Jul 22 doi: 10.1016/j.chest.2020.07.025. PMID: 32710892Free PMC Article
Telomerase mutations in smokers with severe emphysema.
Stanley SE, Chen JJ, Podlevsky JD, Alder JK, Hansel NN, Mathias RA, Qi X, Rafaels NM, Wise RA, Silverman EK, Barnes KC, Armanios M
J Clin Invest 2015 Feb;125(2):563-70. Epub 2014 Dec 22 doi: 10.1172/JCI78554. PMID: 25562321Free PMC Article

Prognosis

Familial Clonal Hematopoiesis in a Long Telomere Syndrome.
DeBoy EA, Tassia MG, Schratz KE, Yan SM, Cosner ZL, McNally EJ, Gable DL, Xiang Z, Lombard DB, Antonarakis ES, Gocke CD, McCoy RC, Armanios M
N Engl J Med 2023 Jun 29;388(26):2422-2433. Epub 2023 May 4 doi: 10.1056/NEJMoa2300503. PMID: 37140166Free PMC Article
Extrapulmonary manifestations of a telomere syndrome in patients with idiopathic pulmonary fibrosis are associated with decreased survival.
Hoffman TW, van der Vis JJ, Biesma DH, Grutters JC, van Moorsel CHM
Respirology 2022 Nov;27(11):959-965. Epub 2022 Apr 13 doi: 10.1111/resp.14264. PMID: 35419815
Long telomeres and cancer risk: the price of cellular immortality.
McNally EJ, Luncsford PJ, Armanios M
J Clin Invest 2019 Aug 5;129(9):3474-3481. doi: 10.1172/JCI120851. PMID: 31380804Free PMC Article
Clinical implications of telomere dysfunction in lung fibrosis.
Molina-Molina M, Borie R
Curr Opin Pulm Med 2018 Sep;24(5):440-444. doi: 10.1097/MCP.0000000000000506. PMID: 30067250
Human telomere biology: A contributory and interactive factor in aging, disease risks, and protection.
Blackburn EH, Epel ES, Lin J
Science 2015 Dec 4;350(6265):1193-8. doi: 10.1126/science.aab3389. PMID: 26785477

Clinical prediction guides

Extrapulmonary manifestations of a telomere syndrome in patients with idiopathic pulmonary fibrosis are associated with decreased survival.
Hoffman TW, van der Vis JJ, Biesma DH, Grutters JC, van Moorsel CHM
Respirology 2022 Nov;27(11):959-965. Epub 2022 Apr 13 doi: 10.1111/resp.14264. PMID: 35419815
Telomere Dysfunction Activates p53 and Represses HNF4α Expression Leading to Impaired Human Hepatocyte Development and Function.
Munroe M, Niero EL, Fok WC, Vessoni AT, Jeong HC, Brenner KA, Batista LFZ
Hepatology 2020 Oct;72(4):1412-1429. Epub 2020 Aug 26 doi: 10.1002/hep.31414. PMID: 32516515Free PMC Article
Cancer and myeloid clonal evolution in the short telomere syndromes.
Schratz KE, Armanios M
Curr Opin Genet Dev 2020 Feb;60:112-118. Epub 2020 Apr 7 doi: 10.1016/j.gde.2020.02.019. PMID: 32276199Free PMC Article
Long telomeres and cancer risk: the price of cellular immortality.
McNally EJ, Luncsford PJ, Armanios M
J Clin Invest 2019 Aug 5;129(9):3474-3481. doi: 10.1172/JCI120851. PMID: 31380804Free PMC Article
Human telomere biology: A contributory and interactive factor in aging, disease risks, and protection.
Blackburn EH, Epel ES, Lin J
Science 2015 Dec 4;350(6265):1193-8. doi: 10.1126/science.aab3389. PMID: 26785477

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