HAL will be down for maintenance from Friday, June 10 at 4pm through Monday, June 13 at 9am. More information
Skip to Main content Skip to Navigation
Journal articles

FANCA Gene Mutations in North African Fanconi Anemia Patients

Abstract : 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.
Document type :
Journal articles
Complete list of metadata

https://hal-riip.archives-ouvertes.fr/pasteur-03546883
Contributor : Abdelhakim Ben Hassine Connect in order to contact the contributor
Submitted on : Friday, January 28, 2022 - 11:11:11 AM
Last modification on : Tuesday, March 29, 2022 - 12:19:44 PM
Long-term archiving on: : Friday, April 29, 2022 - 6:32:05 PM

File

had1.pdf
Publication funded by an institution

Licence


Distributed under a Creative Commons Attribution 4.0 International License

Identifiers

Collections

Citation

Abir Ben Haj Ali, Olfa Messaoud, Sahar Elouej, Faten Talmoudi, Wiem Ayed, et al.. FANCA Gene Mutations in North African Fanconi Anemia Patients. Frontiers in Genetics, Frontiers, 2021, 12, pp.610050. ⟨10.3389/fgene.2021.610050⟩. ⟨pasteur-03546883⟩

Share

Metrics

Record views

12

Files downloads

6