A Narrative Review on Fanconi Anemia: Genetic and Diagnostic Considerations

Sharma, Pankaj; Sharma, Neha; Sharma, Dhruva

doi:10.1055/s-0042-1751303

Cited by 8 publications

(3 citation statements)

References 40 publications

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“…The matrix metalloproteinase Mmp9 is also involved in both vascular and bone development, as demonstrated in mmp9 null mice that develop bone abnormalities . MMP-9 is associated with osteoclast migration through the collagen matrix and impacts early calvarian bone development. − An additional gene associated with skeletal development is fancc, which is involved in a chromosomal instability disorder named Fanconi anemia and is associated with developmental abnormalities including skeletal malformation. − Several brain or neuronal genes were among the identified biomarkers. These included Ppp1r9alb, predicted to be involved in development and function of the cerebellar neural circuits and nervous system development in zebrafish and Dbh, which is expressed in the endocrine and nervous systems of zebrafish embryos, and is essential for mouse embryonic development .…”

Section: Discussionmentioning

confidence: 99%

Applications of Zebrafish Embryo Models to Predict Developmental Toxicity for Agrochemical Product Development

Bianchi,

Bhattacharya,

Bowling

et al. 2024

J. Agric. Food Chem.

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The development of safe crop protection products is a complex process that traditionally relies on intensive animal use for hazard identification. Methods that capture toxicity in early stages of agrochemical discovery programs enable a more efficient and sustainable product development pipeline. Here, we explored whether the zebrafish model can be leveraged to identify mammalian-relevant toxicity. We used transgenic zebrafish to assess developmental toxicity following exposures to known mammalian teratogens and captured larval morphological malformations, including bone and vascular perturbations. We further applied toxicogenomics to identify common biomarker signatures of teratogen exposure. The results show that the larval malformation assay predicted teratogenicity with 82.35% accuracy, 87.50% specificity, and 77.78% sensitivity. Similar and slightly lower accuracies were obtained with the vascular and bone assays, respectively. A set of 20 biomarkers were identified that efficiently segregated teratogenic chemicals from nonteratogens. In conclusion, zebrafish are valuable, robust, and cost-effective models for toxicity testing in the early stages of product development.

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Section: Discussionmentioning

confidence: 99%

Applications of Zebrafish Embryo Models to Predict Developmental Toxicity for Agrochemical Product Development

Bianchi,

Bhattacharya,

Bowling

et al. 2024

J. Agric. Food Chem.

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“…[75] Pure red cell aplasia, or Diamond-Blackfan anemia, frequently manifests as abnormalities of the bone marrow. [76] In 88-100% of cases, Schwachman-diamond syndrome is primarily characterized by neutropenia. [77] Vaccination against the human papillomavirus (eur-lex.europa.eu) lowers the chance of gynecologic cancer in women and perhaps lowers the chance of oral cancer in everyone.…”

Section: Treatment With Co-relate To Diagnosementioning

confidence: 99%

Fanconi anemia and risk of diverse types of cancer: An overview

Khera¹,

Bajaj²

2023

Pharmaspire

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Fanconi anemia (FA) is a rare genetic disorder caused by a mistake in DNA repair that results in a variety of clinical signs and symptoms with varied incidence, most notably progressive bone marrow loss (depending on the affected gene), congenital abnormalities, and a propensity for malignancy. Cancer-prone FA is an unusual condition caused by alterations in at least 22 genes. DNA repair, in particular interstrand DNA crosslink (ICL) repair, is associated with the FA pathway. Cellular susceptibility to DNA cross-linking substances like diepoxybutane is a feature of FA. The report was mailed to 34 Fanconi Canada participants in August 2000 who also had FA confirmed by chromosomal breakage. FA is more prevalent among Spanish Gypsies, Afrikaners, and Ashkenazi Jews in addition to being more prevalent among Ashkenazi Jews. The bone marrow failure of FA can be effectively treated with androgens and hematological growth factors, but the majority of patients develop resistance to these medications. Hematopoietic stem cell transplantation is an option for these patients if a donor is available.

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“…FANCL is a key gene involved in the FA DNA repair pathway, and its homozygous or compound heterozygous mutation can lead to the onset of Fanconi anemia (FA), which is one of the most common inherited BMFs. [3,4] FANCL is just one of the FA complementation (FANC) genes, which include a total of 22 genes, namely FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCO, FANCP, FANCQ, FANCR, FANCS, FANCT, FANCU, FANCV, and FANCW. [5][6][7] Researches have reported that heterozygous mutations in the FANC genes may lead to an increased susceptibility to tumors and acquired BMF.…”

Section: Introductionmentioning

confidence: 99%

An acquired BMF with FANCL gene heterozygous mutation: Case report

Zhang¹,

Xiao²,

Miao³

et al. 2023

Medicine

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Rationale: Bone marrow failure (BMF) includes inherited and acquired BMFs. Acquired BMF can be secondary to various factors, such as autoimmune dysfunction, benzene, drugs, radiation, viral infection and so on. Fanconi anemia (FA) complementation group L (FANCL) is an E3 ubiquitin ligase that participates in the repair of DNA damage. Homozygous or compound heterozygous mutations of FANCL can lead to the onset of FA, which is one of the most common inherited BMFs.Patient concerns and Diagnoses: Here, we report a case of acquired BMF. This patient had a history of benzene exposure for half a year before the onset of the disease, and presented with progressive pancytopenia, especially the reduction of erythrocytes and megakaryocyte, without malformation. Interestingly, this patient and his brother/father had a heterozygous (non-homozygous/compound heterozygous) mutation (Exon9, c.745C > T, p.H249Y) in the FANCL gene. Interventions and Outcomes:The patient successfully underwent unrelated and fully compatible umbilical cord blood hematopoietic stem cell transplantation.Lessons subsections: We report for the first time an acquired BMF case with FANCL gene heterozygous mutation, and the mutation site (Exon9, c.745C > T, p.H249Y) has never been reported. This case suggests that heterozygous mutations in FANCL gene may be associated with increased susceptibility to acquired BMF. Based on current reports and this case, we speculate that heterozygous mutations in the FA complementation gene may exist in a certain proportion of tumor and acquired BMF patients, but have not been detected. We recommend routine screening for FA complementation gene mutations in tumor and acquired BMF patients in clinical practice. If positive results are found, further screening can be conducted on their families.

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A Narrative Review on Fanconi Anemia: Genetic and Diagnostic Considerations

Cited by 8 publications

References 40 publications

Applications of Zebrafish Embryo Models to Predict Developmental Toxicity for Agrochemical Product Development

Applications of Zebrafish Embryo Models to Predict Developmental Toxicity for Agrochemical Product Development

Fanconi anemia and risk of diverse types of cancer: An overview

An acquired BMF with FANCL gene heterozygous mutation: Case report

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