Literature DB >> 32866285

Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia.

Moonjung Jung1, Parinda A Mehta2, Caroline S Jiang3, Rasim O Rosti1, Gabriel Usleaman2, Joel M Correa da Rosa3, Francis P Lach1, Erica Goodridge2, Arleen D Auerbach4, Stella M Davies2, Agata Smogorzewska1, Farid Boulad5.   

Abstract

Fanconi anaemia (FA) is a genetic disorder due to mutations in any of the 22 FANC genes (FANCA-FANCW) and has high phenotypic variation. Siblings may have similar clinical outcome because they share the same variants; however, such association has not been reported. We present the detailed phenotype and clinical course of 25 sibling sets with FA from two institutions. Haematological progression significantly correlated between siblings, which was confirmed in an additional 55 sibling pairs from the International Fanconi Anemia Registry. Constitutional abnormalities were not concordant, except for a moderate degree of concordance in kidney abnormalities and microcephaly.
© 2020 British Society for Haematology and John Wiley & Sons Ltd.

Entities:  

Keywords:  AML; Fanconi anemia; MDS; bone marrow failure; prognosis; sibling

Mesh：

Year:  2020        PMID： 32866285      PMCID： PMC7914271          DOI： 10.1111/bjh.17061

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


  14 in total

1.  Numerical chromosomal changes and risk of development of myelodysplastic syndrome--acute myeloid leukemia in patients with Fanconi anemia.

Authors:  Parinda A Mehta; Richard E Harris; Stella M Davies; Mi-Ok Kim; Robin Mueller; Beatrice Lampkin; Jun Mo; Kasiani Myers; Teresa A Smolarek
Journal:  Cancer Genet Cytogenet       Date:  2010-12

2.  Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family.

Authors:  A Koc; J C Pronk; M Alikasifoglu; H Joenje; C Altay
Journal:  Br J Haematol       Date:  1999-01       Impact factor: 6.998

Review 3.  Pathophysiology and management of inherited bone marrow failure syndromes.

Authors:  Akiko Shimamura; Blanche P Alter
Journal:  Blood Rev       Date:  2010-04-24       Impact factor: 8.250

4.  A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination.

Authors:  Anderson T Wang; Taeho Kim; John E Wagner; Brooke A Conti; Francis P Lach; Athena L Huang; Henrik Molina; Erica M Sanborn; Heather Zierhut; Belinda K Cornes; Avinash Abhyankar; Carrie Sougnez; Stacey B Gabriel; Arleen D Auerbach; Stephen C Kowalczykowski; Agata Smogorzewska
Journal:  Mol Cell       Date:  2015-08-06       Impact factor: 17.970

5.  Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor.

Authors:  Holger Tönnies; Stefanie Huber; Jörn-Sven Kuhl; Antje Gerlach; Wolfram Ebell; Heidemarie Neitzel
Journal:  Blood       Date:  2003-01-02       Impact factor: 22.113

6.  Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.

Authors:  Asuka Hira; Hiromasa Yabe; Kenichi Yoshida; Yusuke Okuno; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Satoru Miyano; Jun Nakamura; Seiji Kojima; Seishi Ogawa; Keitaro Matsuo; Minoru Takata; Miharu Yabe
Journal:  Blood       Date:  2013-09-13       Impact factor: 22.113

7.  A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

Authors:  David I Kutler; Bhuvanesh Singh; Jaya Satagopan; Sat Dev Batish; Marianne Berwick; Philip F Giampietro; Helmut Hanenberg; Arleen D Auerbach
Journal:  Blood       Date:  2002-09-26       Impact factor: 22.113

8.  High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemia.

Authors:  David I Kutler; Arleen D Auerbach; Jaya Satagopan; Philip F Giampietro; Sat Dev Batish; Andrew G Huvos; Andy Goberdhan; Jatin P Shah; Bhuvanesh Singh
Journal:  Arch Otolaryngol Head Neck Surg       Date:  2003-01

9.  Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study.

Authors:  A Butturini; R P Gale; P C Verlander; B Adler-Brecher; A P Gillio; A D Auerbach
Journal:  Blood       Date:  1994-09-01       Impact factor: 22.113

10.  Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.

Authors:  Blanche P Alter; Neelam Giri; Sharon A Savage; Philip S Rosenberg
Journal:  Haematologica       Date:  2017-10-19       Impact factor: 9.941
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  5 in total

1.  Global miRNA expression of bone marrow mesenchymal stem/stromal cells derived from Fanconi anemia patients.

Authors:  Ilgin Cagnan; Mustafa Keles; Ayse Gokce Keskus; Melike Tombaz; Ozge Burcu Sahan; Fatima Aerts-Kaya; Duygu Uckan-Cetinkaya; Ozlen Konu; Aysen Gunel-Ozcan
Journal:  Hum Cell       Date:  2021-11-18       Impact factor: 4.174

2.  AKR1C1 Contributes to Cervical Cancer Progression via Regulating TWIST1 Expression.

Authors:  Xing Wei; Zhongheng Wei; Yueyong Li; Zhongqiu Tan; Cheng Lin
Journal:  Biochem Genet       Date:  2020-11-10       Impact factor: 1.890

3.  Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG.

Authors:  Pedro Reyes; Benilde García-de Teresa; Ulises Juárez; Fernando Pérez-Villatoro; Moisés O Fiesco-Roa; Alfredo Rodríguez; Bertha Molina; María Teresa Villarreal-Molina; Jorge Meléndez-Zajgla; Alessandra Carnevale; Leda Torres; Sara Frias
Journal:  Int J Mol Sci       Date:  2022-02-20       Impact factor: 5.923

Review 4.  Cell and Gene Therapy for Anemia: Hematopoietic Stem Cells and Gene Editing.

Authors:  Dito Anurogo; Nova Yuli Prasetyo Budi; Mai-Huong Thi Ngo; Yen-Hua Huang; Jeanne Adiwinata Pawitan
Journal:  Int J Mol Sci       Date:  2021-06-10       Impact factor: 5.923

5.  Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant.

Authors:  Francis P Lach; Sonia Singh; Kimberly A Rickman; Penelope D Ruiz; Raymond J Noonan; Kenneth B Hymes; Mark D DeLacure; Jennifer A Kennedy; Settara C Chandrasekharappa; Agata Smogorzewska
Journal:  Cold Spring Harb Mol Case Stud       Date:  2020-12-17
  5 in total

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