Tunisia: Communities and Community Genetics

Chaabouni-Bouhamed, Habiba

doi:10.1159/000133303

Cited by 19 publications

(15 citation statements)

References 75 publications

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“…Tunisia is at present the only clear example of an Islamic Arab country where selective abortion of an affected fetus is permissible under civil law [114,115] . There is a diversity of opinions among Islamic institutions on the issue of pregnancy termination, ranging from an absolute prohibition of abortion at any time to the permission for pregnancy termination before the 120th day of gestation under specific circumstances [116,117] .…”

Section: Conclusion and Future Prospectsmentioning

confidence: 99%

Consanguinity and Dysmorphology in Arabs

Al‐Gazali

Hamamy²

2014

Hum Hered

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Incidence rates of congenital disorders among the 350 million inhabitants of Arab countries could be influenced via the people's demographic and cultural characteristics. Arabs usually marry at a young age and have large families. They share certain core cultural values and beliefs, with the family accepted as the central structure of society. Consanguineous marriage is favored and respected in most if not all Arab communities, and intrafamilial unions currently account for 20-50% of all marriages. First-cousin unions are especially popular and constitute almost one quarter of all marriages in many Arab countries. Consequently, autosomal recessive (AR) dysmorphic syndromes constitute a considerable proportion of all birth defects among Arabs. Arab geneticists, with their persistent commitment to advancing research, have contributed to the description of a number of rare and new AR syndromes with the identification of novel genes. The collaboration with research teams in high-income countries resulted in a plethora of data on pathogenic variants and their function in causing dysmorphic syndromes. There could still be a considerable number of rare dysmorphic syndromes that prevail among Arabs which are not hitherto described and whose underlying molecular pathologies are not yet defined. Arab countries should thus strive to deploy DNA diagnostics and to build research capability around local priorities. Furthermore, a characterization of the prevailing genetic disorders in each geographic location, together with their mutations, is needed to plan for appropriate screening and testing protocols. An overview of consanguinity in Arab countries and examples of dysmorphology syndromes associated with consanguinity with their available molecular bases will be discussed.

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Section: Conclusion and Future Prospectsmentioning

confidence: 99%

Consanguinity and Dysmorphology in Arabs

Al‐Gazali

Hamamy²

2014

Hum Hered

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“…Unfortunately, genetic services are still drastically lacking in Tunisia [6,50,51] , and there is a lack of educational programs which could draw the attention of the general public to the potential negative health impacts of consanguinity. Morbidity and mortality due to genetic diseases could be reduced significantly by avoiding consanguineous unions.…”

Section: Resultsmentioning

confidence: 99%

Specific Aspects of Consanguinity: Some Examples from the Tunisian Population

et al. 2014

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Located at the cross-road between Europe and Africa, Tunisia is a North African country of 11 million inhabitants. Throughout its history, it has been invaded by different ethnic groups. These historical events, and consanguinity, have impacted on the spectrum and frequency of genetic diseases in Tunisia. Investigations of Tunisian families have significantly contributed to elucidation of the genetic bases of rare disorders, providing an invaluable resource of cases due to particular familial structures (large family size, consanguinity and share of common ancestors). In the present study, we report on and review different aspects of consanguinity in the Tunisian population as a case study, representing several features common to neighboring or historically related countries in North Africa and the Middle East. Despite the educational, demographic and behavioral changes that have taken place during the last four decades, familial and geographical endogamy still exist at high frequencies, especially in rural areas. The health implications of consanguinity in Tunisian families include an increased risk of the expression of autosomal recessive diseases and particular phenotypic expressions. With new sequencing technologies, the investigation of consanguineous populations provides a unique opportunity to better evaluate the impact of consanguinity on the genome dynamic and on health, in addition to a better understanding of the genetic bases of diseases.

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“…Of the five KS genes analyzed, only PROKR2 and PROK2 have been implicated in the autosomal recessive form of the disease (KAL3). Thus, we asked whether the greater prevalence of PROKR2 mutations in Maghrebian patients than in European patients could simply reflect a greater proportion of KAL3 cases in the Maghrebian patients due to the higher frequency of inbreeding in Maghrebian countries, which has been estimated at w30% of the unions (20). The proportion of the Maghrebian patients born to consanguineous parents is unknown, but the ratio of KS patients who carry PROKR2 mutations in homozygous state to the total number of patients carrying mutations in the gene, 7/28 (25%), may provide an estimate (see Table 3).…”

Section: Resultsmentioning

confidence: 99%

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients

Sarfati

Fouveaut

Leroy

et al. 2013

European Journal of Endocrinology

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Context: Kallmann syndrome (KS) is a genetically heterogeneous developmental disorder that associates hypogonadotropic hypogonadism and anosmia. Various causative genes have been identified, but their respective involvement in different world regions is poorly documented. Objective: We aimed to compare the prevalence of mutations in five routinely analyzed KS genes between Maghrebian and European patients. Methods: Blood samples from 120 presumably unrelated Maghrebian patients were collected for DNA sequencing by the Sanger technique. The prevalence of the non-synonymous mutations in KAL1, FGFR1, FGF8, PROKR2, and PROK2 was determined for each gene, and compared with those previously obtained from the analysis of 712 European patients. Results: Diverse mutations in PROKR2, a gene involved both in monogenic recessive and digenic/oligogenic KS transmission modes, were found in 23.3% of the Maghrebian patients, but only in 5.1% of the European patients (Fisher's exact test, P!0.001), whereas mutations in each of the other four KS genes were present either at similar frequencies in the Maghrebian and European patients (KAL1, PROK2, FGF8, from 6.6 to 0.8%; Fisher's exact test, PO0.4 for all comparisons) or at a lower frequency in Maghrebian patients (FGFR1, 5.0 vs 11.7%; Fisher's exact test, P!0.05). Homozygosity resulting from consanguineous marriages was not sufficient to account for the greater prevalence of PROKR2 mutations in the Maghrebian patients. Conclusions: The great prevalence of PROKR2 mutations in Maghrebian patients has practical consequences for molecular diagnosis of the disease and genetic counseling in the Maghrebian population.

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Tunisia: Communities and Community Genetics

Cited by 19 publications

References 75 publications

Consanguinity and Dysmorphology in Arabs

Consanguinity and Dysmorphology in Arabs

Specific Aspects of Consanguinity: Some Examples from the Tunisian Population

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients

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