ArticleHaematologica2018
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Article in Haematologica, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalization.Annals of hematology · 2020Pooled it
- 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
- Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.Cell death discovery · 2026Article
- The tight bond between Fanconi anemia and aging.Frontiers in aging · 2026Review
- Tracking Cytopenias inmedRxiv : the preprint server for health sciences · 2025Article
- Lentiviral-mediated panErbB CAR-T cell therapy against head and neck squamous cell carcinomas for patients with Fanconi anemia.Molecular therapy. Oncology · 2025Article
- Head and Neck Cancer in Fanconi Anemia: Clinical Challenges and Molecular Insights into a DNA Repair Disorder.Cancers · 2025Review
- miR-29a-3p and TGF-β Axis in Fanconi anemia: mechanisms driving metabolic dysfunction and genome stability.Cellular and molecular life sciences : CMLS · 2025Article
- Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.The Journal of clinical investigation · 2025Article
- Review
- FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.Blood advances · 2024Article
- Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.Haematologica · 2023Article
- A self-repair history: compensatory effect of aFrontiers in genetics · 2023Article
- Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.Orphanet journal of rare diseases · 2022Article
- Transforming growth factor-β signaling modifies the hematopoietic acute inflammatory response to drive bone marrow failure.Haematologica · 2022Article
- Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.Frontiers in oncology · 2022Review
- Dysregulation of oncogenic factors by GFI1B p32: investigation of a novelHaematologica · 2022Article
- A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A.Metabolites · 2021Article
- A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.Genome medicine · 2021Article
- FANCD2 modulates the mitochondrial stress response to prevent common fragile site instability.Communications biology · 2021Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fanconi anemia is a rare disease characterized by congenital malformations, aplastic anemia, and predisposition to cancer. Despite the consolidated role of the Fanconi anemia proteins in DNA repair, their involvement in mitochondrial function is emerging. The purpose of this work was to assess whether the mitochondrial phenotype, independent of genomic integrity, could correlate with patient phenotype. We evaluated mitochondrial and clinical features of 11 affected individuals homozygous or compound heterozygous for p.His913Pro and p.Arg951Gln/Trp, the two residues of FANCA that are more frequently affected in our cohort of patients. Although p.His913Pro and p.Arg951Gln proteins are stably expressed in cytoplasm, they are unable to migrate in the nucleus, preventing cells from repairing DNA. In these cells, the electron transfer between respiring complex I-III is reduced and the ATP/AMP ratio is impaired with defective ATP production and AMP accumulation. These activities are intermediate between those observed in wild-type and FANCA-/- cells, suggesting that the variants at residues His913 and Arg951 are hypomorphic mutations. Consistent with these findings, the clinical phenotype of most of the patients carrying these mutations is mild. These data further support the recent finding that the Fanconi anemia proteins play a role in mitochondria, and open up possibilities for genotype/phenotype studies based on novel mitochondrial criteria.
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