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Abnormal telomere morphology

MedGen UID:
1626627
•Concept ID:
C4531139
•
Cell or Molecular Dysfunction
HPO: HP:0031412

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal telomere morphology

Professional guidelines

PubMed

Consensus recommendations on Epilepsy in Phelan-McDermid syndrome.
de Coo IFM, Jesse S, Le TL, Sala C; European Phelan-McDermid syndrome consortium
Eur J Med Genet 2023 Jun;66(6):104746. Epub 2023 Mar 24 doi: 10.1016/j.ejmg.2023.104746. PMID: 36967043
Diagnosis and treatment of ALT tumors: is Trabectedin a new therapeutic option?
Pompili L, Leonetti C, Biroccio A, Salvati E
J Exp Clin Cancer Res 2017 Dec 22;36(1):189. doi: 10.1186/s13046-017-0657-3. PMID: 29273061Free PMC Article
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F
Nat Genet 2017 Oct;49(10):1529-1538. Epub 2017 Aug 14 doi: 10.1038/ng.3933. PMID: 28805828Free PMC Article

Recent clinical studies

Etiology

Dyskeratosis congenita and telomere biology disorders.
Savage SA
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):637-648. doi: 10.1182/hematology.2022000394. PMID: 36485133Free PMC Article
An update on the central nervous system manifestations of neurofibromatosis type 1.
Nix JS, Blakeley J, Rodriguez FJ
Acta Neuropathol 2020 Apr;139(4):625-641. Epub 2019 Apr 8 doi: 10.1007/s00401-019-02002-2. PMID: 30963251Free PMC Article
Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal.
Mitchell TJ, Turajlic S, Rowan A, Nicol D, Farmery JHR, O'Brien T, Martincorena I, Tarpey P, Angelopoulos N, Yates LR, Butler AP, Raine K, Stewart GD, Challacombe B, Fernando A, Lopez JI, Hazell S, Chandra A, Chowdhury S, Rudman S, Soultati A, Stamp G, Fotiadis N, Pickering L, Au L, Spain L, Lynch J, Stares M, Teague J, Maura F, Wedge DC, Horswell S, Chambers T, Litchfield K, Xu H, Stewart A, Elaidi R, Oudard S, McGranahan N, Csabai I, Gore M, Futreal PA, Larkin J, Lynch AG, Szallasi Z, Swanton C, Campbell PJ; TRACERx Renal Consortium
Cell 2018 Apr 19;173(3):611-623.e17. Epub 2018 Apr 12 doi: 10.1016/j.cell.2018.02.020. PMID: 29656891Free PMC Article
Paternal age and reproduction.
Sartorius GA, Nieschlag E
Hum Reprod Update 2010 Jan-Feb;16(1):65-79. doi: 10.1093/humupd/dmp027. PMID: 19696093
Dyskeratosis congenita.
Savage SA, Alter BP
Hematol Oncol Clin North Am 2009 Apr;23(2):215-31. doi: 10.1016/j.hoc.2009.01.003. PMID: 19327580Free PMC Article

Diagnosis

Testicular aging, male fertility and beyond.
Dong S, Chen C, Zhang J, Gao Y, Zeng X, Zhang X
Front Endocrinol (Lausanne) 2022;13:1012119. Epub 2022 Oct 13 doi: 10.3389/fendo.2022.1012119. PMID: 36313743Free PMC Article
Telomere-mediated lung disease.
Alder JK, Armanios M
Physiol Rev 2022 Oct 1;102(4):1703-1720. Epub 2022 May 9 doi: 10.1152/physrev.00046.2021. PMID: 35532056Free PMC Article
An update on the central nervous system manifestations of neurofibromatosis type 1.
Nix JS, Blakeley J, Rodriguez FJ
Acta Neuropathol 2020 Apr;139(4):625-641. Epub 2019 Apr 8 doi: 10.1007/s00401-019-02002-2. PMID: 30963251Free PMC Article
Aplastic anemia: Etiology, molecular pathogenesis, and emerging concepts.
Shallis RM, Ahmad R, Zeidan AM
Eur J Haematol 2018 Dec;101(6):711-720. Epub 2018 Oct 10 doi: 10.1111/ejh.13153. PMID: 30055055
Dyskeratosis congenita.
Dokal I
Hematology Am Soc Hematol Educ Program 2011;2011:480-6. doi: 10.1182/asheducation-2011.1.480. PMID: 22160078

Therapy

Metformin in aging and aging-related diseases: clinical applications and relevant mechanisms.
Chen S, Gan D, Lin S, Zhong Y, Chen M, Zou X, Shao Z, Xiao G
Theranostics 2022;12(6):2722-2740. Epub 2022 Mar 6 doi: 10.7150/thno.71360. PMID: 35401820Free PMC Article
How Do Telomere Abnormalities Regulate the Biology of Neuroblastoma?
Akter J, Kamijo T
Biomolecules 2021 Jul 28;11(8) doi: 10.3390/biom11081112. PMID: 34439779Free PMC Article
The Neurological Manifestations of Phelan-McDermid Syndrome.
Frank Y
Pediatr Neurol 2021 Sep;122:59-64. Epub 2021 Jun 16 doi: 10.1016/j.pediatrneurol.2021.06.002. PMID: 34325981
Telomere length analysis in Down syndrome birth.
Bhaumik P, Bhattacharya M, Ghosh P, Ghosh S, Kumar Dey S
Mech Ageing Dev 2017 Jun;164:20-26. Epub 2017 Mar 19 doi: 10.1016/j.mad.2017.03.006. PMID: 28327364
Cell apoptosis and hemodialysis-induced inflammation.
Carracedo J, Ramírez R, Madueño JA, Soriano S, Rodríguez-Benot A, Rodríguez M, Martín-Malo A, Aljama P
Kidney Int Suppl 2002 May;(80):89-93. doi: 10.1046/j.1523-1755.61.s80.17.x. PMID: 11982820

Prognosis

Telomere biology disorders may manifest as common variable immunodeficiency (CVID).
Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B
Clin Immunol 2023 Dec;257:109837. Epub 2023 Nov 8 doi: 10.1016/j.clim.2023.109837. PMID: 37944684
Genomic landscape of TP53-mutated myeloid malignancies.
Abel HJ, Oetjen KA, Miller CA, Ramakrishnan SM, Day RB, Helton NM, Fronick CC, Fulton RS, Heath SE, Tarnawsky SP, Nonavinkere Srivatsan S, Duncavage EJ, Schroeder MC, Payton JE, Spencer DH, Walter MJ, Westervelt P, DiPersio JF, Ley TJ, Link DC
Blood Adv 2023 Aug 22;7(16):4586-4598. doi: 10.1182/bloodadvances.2023010156. PMID: 37339484Free PMC Article
Telomere-mediated lung disease.
Alder JK, Armanios M
Physiol Rev 2022 Oct 1;102(4):1703-1720. Epub 2022 May 9 doi: 10.1152/physrev.00046.2021. PMID: 35532056Free PMC Article
FBXO2 targets glycosylated SUN2 for ubiquitination and degradation to promote ovarian cancer development.
Ji J, Shen J, Xu Y, Xie M, Qian Q, Qiu T, Shi W, Ren D, Ma J, Liu W, Liu B
Cell Death Dis 2022 May 7;13(5):442. doi: 10.1038/s41419-022-04892-9. PMID: 35525855Free PMC Article
Revesz syndrome revisited.
Karremann M, Neumaier-Probst E, Schlichtenbrede F, Beier F, Brümmendorf TH, Cremer FW, Bader P, Dürken M
Orphanet J Rare Dis 2020 Oct 23;15(1):299. doi: 10.1186/s13023-020-01553-y. PMID: 33097095Free PMC Article

Clinical prediction guides

Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
Vitrac A, Leblond CS, Rolland T, Cliquet F, Mathieu A, Maruani A, Delorme R, Schön M, Grabrucker AM, van Ravenswaaij-Arts C, Phelan K, Tabet AC, Bourgeron T
Eur J Med Genet 2023 May;66(5):104732. Epub 2023 Feb 21 doi: 10.1016/j.ejmg.2023.104732. PMID: 36822569
A proteomics approach to identify COPD-related changes in lung fibroblasts.
Bekker NJ, van Pijkeren A, Wolters JC, Sánchez Brotons A, Guryev V, Woldhuis RR, Bischoff R, Alkema W, Horvatovich P, van Nijnatten JLL, van den Berge M, Timens W, Brandsma CA
Am J Physiol Lung Cell Mol Physiol 2023 Apr 1;324(4):L521-L535. Epub 2023 Feb 21 doi: 10.1152/ajplung.00105.2022. PMID: 36808722
Telomere Length and Male Fertility.
Gentiluomo M, Luddi A, Cingolani A, Fornili M, Governini L, Lucenteforte E, Baglietto L, Piomboni P, Campa D
Int J Mol Sci 2021 Apr 12;22(8) doi: 10.3390/ijms22083959. PMID: 33921254Free PMC Article
Spectrin and its interacting partners in nuclear structure and function.
Lambert MW
Exp Biol Med (Maywood) 2018 Mar;243(6):507-524. doi: 10.1177/1535370218763563. PMID: 29557213Free PMC Article
Dyskeratosis congenita.
Vulliamy T, Dokal I
Semin Hematol 2006 Jul;43(3):157-66. doi: 10.1053/j.seminhematol.2006.04.001. PMID: 16822458

Recent systematic reviews

Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.
Wang P, Xu Z
BMC Pulm Med 2021 Sep 3;21(1):279. doi: 10.1186/s12890-021-01645-w. PMID: 34479523Free PMC Article
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.
Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A
Eur J Hum Genet 2018 Mar;26(3):293-302. Epub 2018 Jan 22 doi: 10.1038/s41431-017-0042-x. PMID: 29358616Free PMC Article
Survival after Hematopoietic Stem Cell Transplant in Patients with Dyskeratosis Congenita: Systematic Review of the Literature.
Barbaro P, Vedi A
Biol Blood Marrow Transplant 2016 Jul;22(7):1152-1158. Epub 2016 Mar 8 doi: 10.1016/j.bbmt.2016.03.001. PMID: 26968789
Effects of aging on the male reproductive system.
Gunes S, Hekim GN, Arslan MA, Asci R
J Assist Reprod Genet 2016 Apr;33(4):441-54. Epub 2016 Feb 11 doi: 10.1007/s10815-016-0663-y. PMID: 26867640Free PMC Article
"Is obesity linked to aging?": adipose tissue and the role of telomeres.
Tzanetakou IP, Katsilambros NL, Benetos A, Mikhailidis DP, Perrea DN
Ageing Res Rev 2012 Apr;11(2):220-9. Epub 2011 Dec 13 doi: 10.1016/j.arr.2011.12.003. PMID: 22186032

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