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The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature

  1. Author:
    Thompson, Ashley S
    Saba, Nusrat
    McReynolds, Lisa J
    Munir, Saeeda
    Ahmed, Parvez
    Sajjad, Sumaira
    Jones,Kristine
    Yeager,Meredith
    Donovan, Frank X
    Chandrasekharappa, Settara C
    Alter, Blanche P
    Savage, Sharon A [ORCID]
    Rehman, Sadia
  2. Author Address

    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan., Quaid-i-Azam International Hospital, Islamabad, Pakistan., Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, 20850, USA., Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.,
    1. Year: 2021
    2. Date: May 07
    3. Epub Date: 2021 05 07
  1. Journal: Molecular genetics & genomic medicine
    1. Pages: e1693
  2. Type of Article: Article
  3. Article Number: e1693
  4. ISSN: 2324-9269
  1. Abstract:

    Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with characteristic dysmorphology primarily caused by biallelic pathogenic germline variants in any of 22 different DNA repair genes. There are limited data on the specific molecular causes of FA in different ethnic groups. We performed exome sequencing and copy number variant analyses on 19 patients with FA from 17 families undergoing hematopoietic cell transplantation evaluation in Pakistan. The scientific literature was reviewed, and we curated germline variants reported in patients with FA from South Asia and the Middle East. The genetic causes of FA were identified in 14 of the 17 families: seven FANCA, two FANCC, one FANCF, two FANCG, and two FANCL. Homozygous and compound heterozygous variants were present in 12 and two families, respectively. Nine families carried variants previously reported as pathogenic, including two families with the South Asian FANCL founder variant. We also identified five novel likely deleterious variants in FANCA, FANCF, and FANCG in affected patients. Our study supports the importance of determining the genomic landscape of FA in diverse populations, in order to improve understanding of FA etiology and assist in the counseling of families. © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

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External Sources

  1. DOI: 10.1002/mgg3.1693
  2. PMID: 33960719
  3. WOS: 000648097500001

Library Notes

  1. Fiscal Year: FY2020-2021
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