ArticleHaematologica2014
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
Article in Haematologica, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 55 citations in OpenAlex.
- Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.Haematologica · 2019Trial
- Prenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Review
- Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series.International journal of molecular sciences · 2026Article
- A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.Cancer medicine · 2024Article
- Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.Journal of medical genetics · 2023Article
- Validation of Pathogenicity of Gene Variants in Fanconi Anemia Using Patient-derived Dermal Fibroblasts.Annals of laboratory medicine · 2023Article
- A self-repair history: compensatory effect of aFrontiers in genetics · 2023Article
- Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event.Frontiers in genetics · 2023Article
- Review
- An experience with 124 cases of fanconi anemia: clinical spectrum, hematological parameters and chromosomal breakage analysis.American journal of blood research · 2021Article
- Genetic predisposition in pediatric oncology.Medicine and pharmacy reports · 2020Review
- Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.International journal of molecular sciences · 2020Review
- Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies.BMC medical genetics · 2020Article
- Article
- Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.Haematologica · 2018Article
- A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.Molecular genetics & genomic medicine · 2017Article
- [The progress of molecular genetics in bone marrow failure].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2017Article
- A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.British journal of haematology · 2016Article
- Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned.Haematologica · 2016Article
- Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.Molecular genetics & genomic medicine · 2015Article
Corrections and comments
- Erratum issued
Authors and funding
28 authors at 15 institutions in 3 countries.
Funding
Abstract
Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of Fanconi anemia is relatively complex for several aspects including genetic heterogeneity with mutations in at least 16 different genes. In this paper, we report the mutations identified in 100 unrelated probands enrolled into the National Network of the Italian Association of Pediatric Hematoly and Oncology. In approximately half of these cases, mutational screening was carried out after retroviral complementation analyses or protein analysis. In the other half, the analysis was performed on the most frequently mutated genes or using a next generation sequencing approach. We identified 108 distinct variants of the FANCA, FANCG, FANCC, FANCD2, and FANCB genes in 85, 9, 3, 2, and 1 families, respectively. Despite the relatively high number of private mutations, 45 of which are novel Fanconi anemia alleles, 26% of the FANCA alleles are due to 5 distinct mutations. Most of the mutations are large genomic deletions and nonsense or frameshift mutations, although we identified a series of missense mutations, whose pathogenetic role was not always certain. The molecular diagnosis of Fanconi anemia is still a tiered procedure that requires identifying candidate genes to avoid useless sequencing. Introduction of next generation sequencing strategies will greatly improve the diagnostic process, allowing a rapid analysis of all the genes.
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Registered trials
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.