FANCA Gene Mutations in North African Fanconi Anemia Patients

Populations in North Africa (NA) are characterized by a high rate of consanguinity. Consequently, the proportion of founder mutations might be higher than expected and could be a major cause for the high prevalence of recessive genetic disorders like Fanconi anemia (FA). We report clinical, cytogenetic, and molecular characterization of FANCA in 29 North African FA patients from Tunisia, Libya, and Algeria. Cytogenetic tests revealed high rates of spontaneous chromosome breakages for all patients except two of them. FANCA molecular analysis was performed using three different molecular approaches which allowed us to identify causal mutations as homozygous or compound heterozygous forms. It included a nonsense mutation (c.2749C > T; p.Arg917Ter), one reported missense mutation (c.1304G > A; p.Arg435His), a novel missense variant (c.1258G > A; p.Asp409Glu), and the FANCA most common reported mutation (c.3788_3790delTCT; p.Phe1263del). Furthermore, three founder mutations were identified in 86.7% of the 22 Tunisian patients: (1) a deletion of exon 15, in 36.4% patients (8/22); (2), a deletion of exons 4 and 5 in 23% (5/22) and (3) an intronic mutation c.2222 + 166G > A, in 27.3% (6/22). Despite the relatively small number of patients studied, our results depict the mutational landscape of FA among NA populations and it should be taken into consideration for appropriate genetic counseling

Q fever presenting as myocarditis

We report the case of a 19-year-old healthy adolescent, living in an urban area, admitted because of acute chest pain and extensive anterior ST elevation. Coronary arteries were normal on coronary angiography; troponins were very high, echocardiography revealed a preserved global systolic function but an alteration of the longitudinal strain in the inferolateral wall. Cardiac MRI confirmed the diagnosis of acute myocarditis. As part of the etiological workup, Coxiella burnetii serology showed an acute infection. The diagnosis of Coxiella burnetii myocarditis was retained and the patient was treated with doxycycline and corticosteroid therapy. The myocardial localization of this germ is unusual but can be serious, hence the interest of a Coxiella serology in endemic countries face to any acute myocarditis

A Survey of Aedes (Diptera: Culicidae) Mosquitoes in Tunisia and the Potential Role of Aedes detritus and Aedes caspius in the Transmission of Zika Virus

International audienceThe present study aimed to update the list of Aedes mosquito species occurring in Tunisia and to test the vector competence of Aedes (Ochlerotatus) caspius (Pallas) and Ae. (Ochlerotatus) detritus (Haliday), the locally most abundant and widespread species, to transmit Zika virus (ZIKV). In 2017-2018, mosquito larvae were collected from 39 different larval habitats in seven bioclimatic zones of Tunisia. The salinity and pH of each breeding site were measured. The survey revealed the presence of 10 Aedes species in Tunisia: Ae. (Stegomyia) albopictus (Skuse), Ae. (Ochlerotatus) berlandi (Séguy), Ae. caspius, Ae. detritus, Ae. (Finlaya) echinus (Edwards), Ae. (Finlaya) geniculatus (Olivier), Ae. (Acartomyia) mariae (Sergent and Sergent), Ae. (Ochlerotatus) pulcritarsis (Rondani), Ae. (Aedimorphus) vexans (Meigen), and Ae. (Fredwardsius) vittatus (Bigot). Of these 10 species, Ae. caspius and Ae. detritus were the most abundant in Tunisia. Aedes detritus and Ae. caspius larvae were reared until the imago stage under insectary conditions to test autogeny. The study showed that Ae. detritus is autogenous and stenogamous and Ae. caspius, anautogenous and eurygamous. Finally, the collected strains of these two species were experimentally infected with the Asian genotype of ZIKV, originally isolated from a patient in April 2014 in New Caledonia, to test their vector competence. Neither of these species was able to transmit ZIKV at 7 and 14 d postexposure. Further investigations are needed to test the competence of other Tunisian mosquito species that may be associated with ZIKV transmission

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

International audienceFanconi anemia (FA) is a recessive chromosomal instability syndrome that is clinically characterized by multiple symptoms. Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for FA diagnosis. In this study, we provide a detailed laboratory protocol for accurate assessment of FA diagnosis based on mitomycin C (MMC) test. Induced chromosomal breakage study was successful in 171 out of 205 aplastic anemia (AA) patients. According to the sensitivity of MMC at 50 ng/ml, 38 patients (22.22%) were diagnosed as affected and 132 patients (77.17%) as unaffected. Somatic mosaicism was suspected in an 11-year-old patient with a FA phenotype. Twenty-six siblings of FA patients were also evaluated and five of them (19.23%) were diagnosed as FA. From this study, a standard protocol for diagnosis of FA was developed. It is routinely used as a diagnostic test of FA in Tunisia