Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

Romdhane, Lilia; Kéfi, Rym; Azaiez, Héla; Halim, Nizar Ben; Dellagi, Koussay; Abdelhak, Sonia

doi:10.1186/1750-1172-7-52

Cited by 68 publications

(59 citation statements)

References 82 publications

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“…In Tunisia, among 346 genetic disorders, 62.9% were AR, 23% autosomal dominant, and 5.4% X-linked, the remaining were based on a Y-linked, mitochondrial, or unknown mode of transmission. For AR diseases, most of the mutations were identified in a homozygous state among the affected individuals, with some being founder mutations [36,37] .…”

Section: Consanguineous Marriages In Arab Countriesmentioning

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: Consanguineous Marriages In Arab Countriesmentioning

confidence: 99%

Consanguinity and Dysmorphology in Arabs

Al‐Gazali

Hamamy²

2014

Hum Hered

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“…The cosegregation of two genetic diseases in the same family, also known as comorbidity, has been previously reported in inbred populations from Middle East and North Africa [14,15,16,17,18]. In Tunisia, 75 comorbid associations have been described.…”

Section: Discussionmentioning

confidence: 86%

A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism

Abdallah

Lakhoua²,

Nagara³

et al. 2014

Horm Res Paediatr

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Background/Aims: The coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hypogonadism (CHH) has so far not been reported in the literature. This study aimed to characterize at the clinical and genetic level one patient presenting an association of AAAS and CHH in order to identify causal mutations. Methods: Clinical and endocrinal investigations were performed and followed by mutational screening of candidate genes. Results: At the age of 18, the patient presented sexual infantilism, a micropenis and gynecomastia. No mutation was revealed in GnRHR, TACR3/TAC3, PROK2/PROKR2 and PROP1 genes, except a homozygous intronic variation (c.244 + 128C>T; dbSNP: rs350129) in the KISS1R gene, which is likely nondeleterious. A homozygous splice-donor site mutation (IVS14 + 1G>A) was found in the AAAS gene. This mutation, responsible for AAAS, is a founder mutation in North Africa. Conclusion: This is the first report on a Tunisian patient with the coexistence of AAAS and CHH. The diagnosis of CHH should be taken in consideration in patients with Allgrove syndrome and who carry the IVS14 + 1G>A mutation as this might challenge appropriate genetic counseling.

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“…Both of these issues have been reported in other highly consanguineous populations. 10,11,12 and could affect well-being and survival.…”

Section: Discussionmentioning

confidence: 99%

Is Consanguineous Marriage Responsible for Congenital Cardiac and Extra-Cardiac Anomalies?

Bage¹,

Rao²

2016

jemds

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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

Cited by 68 publications

References 82 publications

Consanguinity and Dysmorphology in Arabs

Consanguinity and Dysmorphology in Arabs

A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism

Is Consanguineous Marriage Responsible for Congenital Cardiac and Extra-Cardiac Anomalies?

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