Literature DB >> 30891747

Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.

Wenyi Shen1,2, Cassandra M Kerr1, Bartlomiej Przychozen1, Reda Z Mahfouz1, Thomas LaFramboise3, Yasunobu Nagata1, Rabi Hanna4, Tomas Radivoyevitch5, Aziz Nazha1, Mikkael A Sekeres1, Jaroslaw P Maciejewski1.   

Abstract

Compound heterozygous germline mutations in CTC1 gene have been found in patients with atypical dyskeratosis congenita (DC), whereas heterozygous carriers are unaffected. Through screening of a large cohort of adult patients with acquired bone marrow failure syndromes, in addition to a DC case, we have also found extremely rare or novel heterozygous deleterious germline variants of CTC1 in patients with aplastic anaemia (AA; n = 5), paroxysmal nocturnal haemoglobinuria (PNH; n = 3) and myelodysplastic syndrome (MDS; n = 2). A compound heterozygous case of AA showed clonal evolution. Our results suggest that some of the inherited CTC1 variants may represent predisposition factors for acquired bone marrow failure.
© 2019 British Society for Haematology and John Wiley & Sons Ltd.

Entities:  

Keywords:  zzm321990CTC1zzm321990; bone marrow failure; germline variant; heterozygous; telomere length

Mesh：

Substances：

Year:  2019        PMID： 30891747      PMCID： PMC6536344          DOI： 10.1111/bjh.15862

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   8.615


  13 in total

1.  Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Authors:  Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel-Salem; Riyana Babul-Hirji; Peter Baxter; Andrea Berger; Luisa Bonafé; Janice E Brunstom-Hernandez; Johannes A Buckard; David Chitayat; Wui K Chong; Duccio M Cordelli; Patrick Ferreira; Joel Fluss; Ewan H Forrest; Emilio Franzoni; Caterina Garone; Simon R Hammans; Gunnar Houge; Imelda Hughes; Sebastien Jacquemont; Pierre-Yves Jeannet; Rosalind J Jefferson; Ram Kumar; Georg Kutschke; Staffan Lundberg; Charles M Lourenço; Ramesh Mehta; Sakkubai Naidu; Ken K Nischal; Luís Nunes; Katrin Ounap; Michel Philippart; Prab Prabhakar; Sarah R Risen; Raphael Schiffmann; Calvin Soh; John B P Stephenson; Helen Stewart; Jon Stone; John L Tolmie; Marjo S van der Knaap; Jose P Vieira; Catheline N Vilain; Emma L Wakeling; Vanessa Wermenbol; Andrea Whitney; Simon C Lovell; Stefan Meyer; John H Livingston; Gabriela M Baerlocher; Graeme C M Black; Gillian I Rice; Yanick J Crow
Journal:  Nat Genet       Date:  2012-01-22       Impact factor: 38.330

2.  Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

Authors:  Hiroki Yamaguchi; Rodrigo T Calado; Hinh Ly; Sachiko Kajigaya; Gabriela M Baerlocher; Stephen J Chanock; Peter M Lansdorp; Neal S Young
Journal:  N Engl J Med       Date:  2005-04-07       Impact factor: 91.245

Review 3.  Bone marrow failure and the telomeropathies.

Authors:  Danielle M Townsley; Bogdan Dumitriu; Neal S Young
Journal:  Blood       Date:  2014-09-18       Impact factor: 22.113

4.  Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome.

Authors:  Hiroki Yamaguchi; Gabriela M Baerlocher; Peter M Lansdorp; Stephen J Chanock; Olga Nunez; Elaine Sloand; Neal S Young
Journal:  Blood       Date:  2003-04-03       Impact factor: 22.113

5.  A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.

Authors:  Olivier Bluteau; Marie Sebert; Thierry Leblanc; Régis Peffault de Latour; Samuel Quentin; Elodie Lainey; Lucie Hernandez; Jean-Hugues Dalle; Flore Sicre de Fontbrune; Etienne Lengline; Raphael Itzykson; Emmanuelle Clappier; Nicolas Boissel; Nadia Vasquez; Mélanie Da Costa; Julien Masliah-Planchon; Wendy Cuccuini; Anna Raimbault; Louis De Jaegere; Lionel Adès; Pierre Fenaux; Sébastien Maury; Claudine Schmitt; Marc Muller; Carine Domenech; Nicolas Blin; Bénédicte Bruno; Isabelle Pellier; Mathilde Hunault; Stéphane Blanche; Arnaud Petit; Guy Leverger; Gérard Michel; Yves Bertrand; André Baruchel; Gérard Socié; Jean Soulier
Journal:  Blood       Date:  2017-11-16       Impact factor: 22.113

6.  Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Authors:  Michael Y Zhang; Siobán B Keel; Tom Walsh; Ming K Lee; Suleyman Gulsuner; Amanda C Watts; Colin C Pritchard; Stephen J Salipante; Michael R Jeng; Inga Hofmann; David A Williams; Mark D Fleming; Janis L Abkowitz; Mary-Claire King; Akiko Shimamura
Journal:  Haematologica       Date:  2014-09-19       Impact factor: 9.941

7.  Mutations in the telomere capping complex in bone marrow failure and related syndromes.

Authors:  Amanda J Walne; Tanya Bhagat; Michael Kirwan; Cyril Gitiaux; Isabelle Desguerre; Norma Leonard; Elena Nogales; Tom Vulliamy; Inderjeet S Dokal
Journal:  Haematologica       Date:  2012-08-16       Impact factor: 9.941

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

9.  Molecular basis of telomere syndrome caused by CTC1 mutations.

Authors:  Liuh-Yow Chen; Jana Majerská; Joachim Lingner
Journal:  Genes Dev       Date:  2013-10-01       Impact factor: 11.361

10.  Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Authors:  Maja Tarailo-Graovac; Jing Yun Alice Zhu; Allison Matthews; Clara D M van Karnebeek; Wyeth W Wasserman
Journal:  Genet Med       Date:  2017-05-04       Impact factor: 8.822
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  5 in total

1.  Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1.

Authors:  Arunabh Choudhury; Taj Mohammad; Nikhil Samarth; Afzal Hussain; Md Tabish Rehman; Asimul Islam; Mohamed F Alajmi; Shailza Singh; Md Imtaiyaz Hassan
Journal:  Sci Rep       Date:  2021-05-13       Impact factor: 4.379

2.  miR-376a Provokes Rectum Adenocarcinoma Via CTC1 Depletion-Induced Telomere Dysfunction.

Authors:  Yang Liu; Xiaotong Zhao; Bing Wang; Zhijia Liu; Manman Zhang; Jinhan Wang; Chang Xu; Yan Wang; Liqing Du; Feng Wang; Qin Wang; Qiang Liu
Journal:  Front Cell Dev Biol       Date:  2021-04-16

3.  Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome.

Authors:  Wellington Dos Santos; Edilene Santos de Andrade; Felipe Antonio de Oliveira Garcia; Natália Campacci; Cristina da Silva Sábato; Matias Eliseo Melendez; Rui Manuel Reis; Henrique de Campos Reis Galvão; Edenir Inez Palmero
Journal:  Cancers (Basel)       Date:  2022-08-31       Impact factor: 6.575

Review 4.  Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Authors:  Mohd Amir; Parvez Khan; Aarfa Queen; Ravins Dohare; Mohamed F Alajmi; Afzal Hussain; Asimul Islam; Faizan Ahmad; Imtaiyaz Hassan
Journal:  Cells       Date:  2020-02-04       Impact factor: 7.666

5.  Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Authors:  Borahm Kim; Woobin Yun; Seung-Tae Lee; Jong Rok Choi; Keon Hee Yoo; Hong Hoe Koo; Chul Won Jung; Sun Hee Kim
Journal:  Sci Rep       Date:  2020-08-31       Impact factor: 4.379
  5 in total

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