Genetics and genomic medicine in Tunisia

Elloumi-Zghal, Houda; Bouhamed, Habiba Chaabouni

doi:10.1002/mgg3.392

Cited by 8 publications

(5 citation statements)

References 189 publications

(163 reference statements)

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“…The identification of a founder mutation specific to a given geographic origin facilitates the diagnosis and reduces the diagnosis cost. Indeed, in Tunisia, among 174 genetic diseases with an identified molecular defect, 73 (41.9%) are due to founder mutations (Romdhane and Abdelhak, 2011;Elloumi Zghal and Chaabouni Bouhamed, 2018;Romdhane et al, 2019). This high frequency of founder mutations could be explained by the high rates of inbreeding and endogamy that characterize NA populations: 34.04% in Algeria, 37.6% in Libya and 29.9% in Tunisia (Abudejaja et al, 1987;Zaoui and Biémont, 2002;Ben Halim et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

FANCA Gene Mutations in North African Fanconi Anemia Patients

et al. 2021

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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.

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Section: Discussionmentioning

confidence: 99%

FANCA Gene Mutations in North African Fanconi Anemia Patients

et al. 2021

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“…These studies not only assess the status of genetic diseases in Tunisia, but also emphasize the importance of early interventions, like NBS, to reduce morbidity and mortality. One report describes many of the reasons to have a national NBS program in Tunisia and the barriers to implementation and suggests a targeted cascading carrier screening alternative to implementing systematic NBS [ 1421 ]. A 2018 genetics review identifies some of the major healthcare (and NBS) challenges, noting that, “ … there is an urgent need to increase genetic literacy among the health care personnel, in particular primary care practitioners, by providing the appropriate education and training.…”

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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“…The so-called “Maghrebian” I244T mutation is predominant in all Tunisian regions. It has been described in Morocco, Algeria, Libya, Turkey, Pakistan, and the Canary Islands [ 14 ]. It was also the most frequent mutation in our series.…”

Section: Discussionmentioning

confidence: 99%

Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center

Hajji

Bettaieb

Kâaroud

et al. 2023

International Journal of Nephrology

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Introduction. Primary hyperoxaluria type 1 (PH1) is a rare and inherited condition of urolithiasis. The aim of our study was to analyze clinical, paraclinical, and evolutionary aspects of PH1 in adult patients in our Nephrology department. Methods. We conducted a retrospective single-center study between 1990 and 2021. We collected patients followed for PH1 confirmed by genetic study and/or histopathological features of renal biopsy and morphoconstitutional analysis of the calculi. Results. There were 25 patients with a gender ratio of 1.78. The median age at onset of symptoms was 18 years. A delay in diagnosis more than 10 years was noted in 13 cases. The genetic study found the I244T mutation in 17 cases and 33-34 InsC in 4 cases. A kidney biopsy was performed in 5 cases, on a native kidney in 4 cases and on a graft biopsy in one case. The analysis of calculi was done in 10 cases showing type Ic in 2 cases. After a median follow-up of 13 years (1 year–42 years), 14 patients progressed to end-stage chronic renal failure (ESRD). The univariate study demonstrated a remarkable association with progression to ESRD in our population (44% vs. 56%) RR = 13.32 (adjusted ORs (95% CI): 2.82–62.79) ( p < 0.01 ). Conclusion. Progression to ESRD was frequent in our series. Early diagnosis and adequate management can delay such an evolution.

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Genetics and genomic medicine in Tunisia

Abstract: Genetics and genomic medicine in Tunisia.

Cited by 8 publications

References 189 publications

FANCA Gene Mutations in North African Fanconi Anemia Patients

FANCA Gene Mutations in North African Fanconi Anemia Patients

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center

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