Evidence map›Paper›PMID 33960719›Full record

ReviewMolecular genetics & genomic medicine2021

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

Ashley S Thompson, Nusrat Saba, Lisa J McReynolds, Saeeda Munir, Parvez Ahmed, Sumaira Sajjad, Kristine Jones, Meredith Yeager, Frank X Donovan, Settara C Chandrasekharappa and 3 more

Open access · goldAbstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 39% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 5 institutions in 2 countries.

Ashley S ThompsonClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Nusrat SabaInstitute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
Lisa J McReynoldsClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Saeeda MunirInstitute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
Parvez AhmedQuaid-i-Azam International Hospital, Islamabad, Pakistan.
Sumaira SajjadInstitute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
Kristine JonesCancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, 20850, USA.
Meredith YeagerCancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, 20850, USA.
Frank X DonovanCancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Settara C ChandrasekharappaCancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Blanche P AlterClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Sharon A SavageClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID 0000-0001-6006-0740
Sadia RehmanInstitute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
Institute of Biomedical and Genetic Engineering · PKNational Cancer Institute · USLeidos (United States) · USNational Institutes of Health · USQuaid-i-Azam University · PK

Funding

Clinical Genetic Studies of Familial and Hereditary Cancer SyndromesZIACP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$111.8M
POSITIONAL CLONING OF THE MEN1 GENEZIAHG000029 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI CHANDRASEKHARAPPA, SETTARA · 2009 to 2025
$13.3M
6 · The paper itself

Abstract

backgroundFanconi 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.

methodsWe 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.

resultsThe 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.

conclusionsOur 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.

Indexed as

Gene FrequencyAdolescentAsiaChildChild, PreschoolDNA Copy Number VariationsExomeFanconi AnemiaFanconi Anemia Complementation Group F ProteinFanconi Anemia Complementation Group G ProteinFanconi Anemia Complementation Group L ProteinFemaleFounder EffectHumansMaleMiddle EastFANCF protein, humanFANCG protein, humanFANCL protein, humanFanconi Anemia Complementation Group F ProteinFanconi Anemia Complementation Group G ProteinFanconi Anemia Complementation Group L ProteinFanconi anemiagenetic testinghematopoietic cell transplantationinherited bone marrow failure syndromepopulation genetics

Identifiers

PMID33960719
PMCPMC8372062
OpenAlexW3158944398

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.