Differentiation of Fanconi anemia and aplastic anemia using mitomycin C test in Tunisia

Talmoudi, Faten; Kilani, O.; Ayed, Wiem; Mellouli, Fethi; Torjmane, Lamia; Aissaouï, Lamia; Youssef, Yosra Ben; Kammoun, L.; Othmane, Tarek Ben; Béjaoui, Mohamed; Romdhane, Neïla Ben; Elloumi, Moez; Hadiji, S.; Hentati, S.; Chemkhi, I.; Abidli, Nabila; Guermani, Helmi; Abdelhak, Sonia; Amouri, Ahlem

doi:10.1016/j.crvi.2013.02.001

Cited by 6 publications

(7 citation statements)

References 18 publications

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“…All patients were diagnosed as FA on the basis of clinical symptoms and/or family history and/or hypersensitivity to Mitomicyn C at a final concentration of 50 ng/mL in lymphocyte culture (Talmoudi et al 2013).…”

Section: Patientsmentioning

confidence: 99%

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis

Amouri

Talmoudi

Messaoud

et al. 2014

Molec Gen & Gen Med

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Tunisian population is characterized by its heterogeneous ethnic background and high rate of consanguinity. In consequence, there is an increase in the frequency of recessive genetic disorders including Fanconi anemia (FA). The aim of this study was to confirm the existence of a founder haplotype among FA Tunisian patients and to identify the associated mutation in order to develop a simple tool for FA diagnosis. Seventy-four unrelated families with a total of 95 FA patients were investigated. All available family members were genotyped with four microsatellite markers flanking FANCA gene. Haplotype analysis and homozygosity mapping assigned 83 patients belonging to 62 families to the FA-A group. A common haplotype was shared by 42 patients from 26 families at a homozygous state while five patients from five families were heterozygous. Among them, 85% were from southern Tunisia suggesting a founder effect. Using multiplex ligation-dependent probe amplification (MLPA) technique, we have also demonstrated that this haplotype is associated with a total deletion of exon 15 in FANCA gene. Identification of a founder mutation allowed genetic counseling in relatives of these families, better bone marrow graft donor selection and prenatal diagnosis. This mutation should be investigated in priority for patients originating from North Africa and Middle East.

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Section: Patientsmentioning

confidence: 99%

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis

Amouri

Talmoudi

Messaoud

et al. 2014

Molec Gen & Gen Med

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“…A standard chromosomal breakage test with MMC in peripheral blood cultures has been conducted to assess chromosomal hypersensitivity to clastogenic agents as previously detailed (Talmoudi et al, ).…”

Section: Methodsmentioning

confidence: 99%

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Ali

Amouri

Sayeb

et al. 2019

Molec Gen & Gen Med

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Background Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region with the co‐occurrence of two or more diseases. Methods We report here on a consanguineous Libyan family whose child was initially diagnosed as presenting Fanconi anemia (FA) with uncommon skeletal deformities. The chromosome breakage test has been performed using mitomycin C (MMC) while molecular analysis was performed by a combined approach of linkage analysis and whole exome sequencing. Results Cytogenetic analyses showed that the karyotype of the female patient is 46,XY suggesting the diagnosis of a disorder of sex development (DSD). By looking at the genetic etiology of FA and DSD, we have identified p.[Arg798*];[Arg798*] mutation in FANCJ (OMIM #605882) gene responsible for FA and p.[Arg108*];[Arg1497Trp] in EFCAB6 (Gene #64800) gene responsible for DSD. In addition, we have incidentally discovered a novel mutation p.[Gly1372Arg];[Gly1372Arg] in the ERCC6 ( CSB ) (OMIM #609413) gene responsible for COFS that might explain the atypical severe skeletal deformities. Conclusion The co‐occurrence of clinical and overlapping genetic heterogeneous entities should be taken into consideration for better molecular and genetic counseling.

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“…However, pancytopenia along with chromosome fragility is the principal feature of FA. 5,30,31 Diamond Blackfan anemia: it is a pure red cell aplasia which typically presents as a defect in erythropoiesis. Patients present with macrocytic-normochromic anemia, normal platelets, normal WBCs, and low reticulocytes.…”

Section: Differential Diagnosismentioning

confidence: 99%

A Narrative Review on Fanconi Anemia: Genetic and Diagnostic Considerations

Sharma

2022

Glob Med Genet

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Fanconi anemia (FA) is an autosomal recessive disorder, both genetically and phenotypically. It is characterized by chromosomal instability, progressive bone marrow failure, susceptibility to cancer, and various other congenital abnormalities. It involves all the three cell lines of blood. So far, biallelic mutations in 21 genes and one x-linked gene have been detected and found to be associated with FA phenotype. Signs and symptoms start setting in by the age of 4 to 7 years, mainly hematological symptoms. This includes pancytopenia, that is, a reduction in the number of white blood cells (WBCs), red blood cells (RBCs), and platelets. Therefore, the main criteria for diagnosis of FA include skeletal malformations, pancytopenia, hyperpigmentation, short stature, urogenital abnormalities, central nervous system, auditory, renal, ocular, and familial occurrence. Patients showing signs and symptoms of FA should be thoroughly evaluated. A complete blood count will reveal a reduced number of RBC, WBC, and platelets, that is, pancytopenia. Chromosomal breakage study/stress cytogenetics should be done in patients with severe pancytopenia. Momentousness timely diagnosis of current disease, prenatal diagnosis, and genetic counseling should be emphasized.

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Differentiation of Fanconi anemia and aplastic anemia using mitomycin C test in Tunisia

Cited by 6 publications

References 18 publications

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

A Narrative Review on Fanconi Anemia: Genetic and Diagnostic Considerations

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