The population of Tunisia rose from 2.7 millions before the Second World War to 10,074,951 in 2005. Modern Tunisians are the descendents of indigenous Berbers and of people from various civilizations that were assimilated into the population over the centuries. Since its independence in 1956, Tunisia has enjoyed a stable political regime. The social landscape has also changed, based on the declaration of the Code of Personal Status, and on the nationwide education and economic progress.Consanguineous marriages are prevalent, with the same distribution between maternal and paternal relatives’ offspring. Large and consanguineous families contributed to the description of a number of new autosomal recessive conditions and to identify new loci and genes. Genetic disorders are common in Tunisia, where most people are receptive to health guidelines. Selective abortion of an affected fetus is legal in Tunisia. Contraception is encouraged. This paper reviews common genetic disorders in the country. In spite of the high quality of health care services provided in Tunisia and the progress made in genetic research in the country, genetic services still remain insufficient and do not cover all parts of the country.At present, genetic counseling and prenatal diagnosis seems to be the method of choice to prevent genetic diseases in Tunisia, and such services should be developed as a priority despite the financial costs of such a program.

National Statistics Institute of Tunisia.
The Library of Congress: A country study: Tunisia.
Brace RM: Morocco, Algeria, Tunisia. Englewood Cliffs, Prentice-Hall, 1964, pp 39–52, 95–97.
Slim H, Mahjoubi A, Belkhoja K, Ennabli A (eds): Histoire générale de la Tunisie des temps modernes (General history of modern Tunisia). Arles, SUD, 2007.
Riou S, El Younsi C, Chaabouni H: Consanguinité dans la population du nord de la Tunisie (in French). Tunis Med 1989;67:167–172.
Kerkeni E, Monastiri K, Saket B, Rudan D, Zgaga L, Ben Cheikh H: Association among education level, occupation status, and consanguinity in Tunisia and Croatia. Croat Med J 2006;47:656–661.
Alwan A, Modell B: Community control of genetic and congenital disorders. EMRO Technical Publication Series 24. Geneva, WHO Regional Office for the Eastern Mediterranean Region, 1997.
Znaidi R, Hafsia R, M’Rad A, Belhadj A, Kastally R, Hafsia A: Prevalence of hemoglobinopathies in Nefza: study of 1303 patients (in French). Tunis Med 1992;70:400–404.
Mseddi S, Gargouri J, Labiadh Z, Kassis M, Elloumi M, Ghali L, Dammak J, Harrabi M, Souissi T, Frikha M: Prevalence of hemoglobin abnormalities in Kebili (Tunisian South) (in French). Rev Epidemiol Sante Publique 1999;47:29–36.
Fattoum S: Hemoglobinopathies in Tunisia. An updated review of the epidemiologic and molecular data (in French). Tunis Med 2006;84:687–696.
Fattoum S, Messaoud T, Bibi A: Molecular basis of beta-thalassemia in the population of Tunisia. Hemoglobin 2004;28:177–187.
Chouk I, Daoud BB, Mellouli F, Bejaoui M, Gérard N, Dellagi K, Abbes S: Contribution to the description of the beta-thalassemia spectrum in Tunisia and the origin of mutation diversity. Hemoglobin 2004;28:189–195.
Laradi S, Haj Khelil A, Omri H, Chaieb A, Mahjoub T, Benlimam H, Amri F, Saad A, Miled A, Leturcq F, Ben Chibani J, Beldjord C: Molecular analysis and prenatal diagnosis of beta-thalassemia: about our experience in central Tunisia (in French). Ann Biol Clin (Paris) 2000;58:453–460.
Zorai A, Harteveld CL, Bakir A, Van Delft P, Falfoul A, Dellagi K, Abbes S, Giordano PC: Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth. Hemoglobin 2002;26:353–362.
Bouchlaka C, Abdelhak S, Amouri A, Ben Abid H, Hadiji S, Frikha M, Ben Othman T, Amri F, Ayadi H, Hachicha M, Rebaï A, Saad A, Dellagi K: Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. J Hum Genet 2003;48:352–361.
A candidate gene for familial Mediterranean fever. The French FMF Consortium. Nat Genet 1997;17:25–31.
Chaabouni Bouhamed H, Ksantini M, M’rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N: MEFV mutations in Tunisian patients suffering from familial Mediterranean fever. Semin Arthritis Rheum 2007;36:397–401.
Kharrat M, Tardy V, M’Rad R, Maazoul F, Jemaa LB, Refai M, Morel Y, Chaabouni H: Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation. J Clin Endocrinol Metab 2004;89:368–374.
Kharrat M, Tardy V, M’rad R, Maazoul F, Morel Y, Chaabouni H: A novel 13-pb deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia. Diagn Mol Pathol 2005;14:250–252.
Chaabouni H, Menassa R, Maazoul F, Ftouhi B, Kamoun M, Kacem M, Jemaa LB, Morel Y: 11β-hydroxylase deficiency in Tunisia only due to two mutations of the CYP11B1 gene: G295V a novel mutation and Q356X. Horm Res 2005;64(suppl 1):336–337.
Messaoud T, Verlingue C, Denamur E, Pascaud O, Quere I, Fattoum S, Elion J, Ferec C: Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet 1996;4:20–24.
Messaoud T, Bel Haj Fredj S, Bibi A, Elion J, Ferec C, Fattoum S: Molecular epidemiology of cystic fibrosis in Tunisia (in French). Ann Biol Clin (Paris) 2005;63:627–630.
Ben Hamida M, Chaabouni H, Madani S, Boussen S, Sammoud S, Letaief F, Mrabet A, Hentati F, Miladi N: Etude génétique des hérédodégénérescences spino-cérébelleuses: le rôle de la consanguinité dans leur survenue (in French). J Génét Hum 1986;34:267–275.
Mrad R, Dorboz I, Ben Jemaa L, Maazoul F, Trabelsi M, Chaabouni M, Mlaiki B, Miladi N, Hentati F, Chaabouni H: Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients. Tunis Med 2006;84:465–469.
Ben Hamida M, Attia N, Chabouni H, Fardeau M: Autosomal recessive severe, proximal myopathy in children, common in Tunisia (in French). Rev Neurol (Paris) 1983;139:289–297.
Ben Othmane K, Ben Hamida M, Pericak-Vance MA, Ben Hamida C, Blel S, Carter SC, Bowcock AM, Petruhkin K, Gilliam TC, Roses AD, Hentati F, Vance JM: Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet 1992;2:315–317.
Ben Hamida C, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gyapay G, Vignal A, Le Paslier D, Cohen D: Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 1993;5:195–200.
Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung WY, Figlewicz DA, Haines J, Rimmler J, Ben Hamida C: Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35. Nat Genet 1994;7:425–428.
Ben Hamida C, Cavalier L, Belal S, Sanhaji H, Nadal N, Barhoumi C, M’Rissa N, Marzouki N, Mandel JL, Ben Hamida M, Koenig M, Hentati F: Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. Neurogenetics 1997;1:129–133.
Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM: Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. Genomics 1999;62:344–349.
Driss A, Amouri R, Ben Hamida C, Souilem S, Gouider-Khouja N, Ben Hamida M, Hentati F: A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromuscul Disord 2000;10:240–246.
Mrissa N, Belal S, Hamida CB, Amouri R, Turki I, Mrissa R, Hamida MB, Hentati F: Linkage to chromosome 13q11–12 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology 2000;54:1408–1414.
Barhoumi C, Amouri R, Ben Hamida C, Ben Hamida M, Machghoul S, Gueddiche M, Hentati F: Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromuscul Disord 2001;11:27–34.
Gouider-Khouja N, Larnaout A, Amouri R, Sfar S, Belal S, Ben Hamida C, Ben Hamida M, Hattori N, Mizuno Y, Hentati F: Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study. Parkinsonism Relat Disord 2003;9:247–251.
Fazaa B, Zghal M, Bailly C, Zeglaoui F, Goucha S, Mokhtar I, Kharfi M, Ezzine N, Kamoun MR: Melanoma in xeroderma pigmentosum: 12 cases (in French). Ann Dermatol Venereol 2001;128:503–506.
Zghal M, El-Fekih N, Fazaa B, Fredj M, Zhioua R, Mokhtar I, Mrabet A, Ferjani M, Gaigi S, Kamoun MR: Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 49 Tunisian cases (in French). Tunis Med 2005;83:760–763.
Nishigori C, Zghal M, Yagi T, Imamura S, Komoun MR, Takebe H: High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. Am J Hum Genet 1993;53:1001–1006.
Cherif F, Mnajja N, Feriani S, Ben Saïd ZM, Jaafoura MH, Dhahri AB, Boubaker S: Hereditary epidermolysis bullosa in Tunisia: an epidemio-clinical and ultrastructural study (in French). Tunis Med 2005;83:760–763.
Souissi A, Zeglaoui F, Zouari B, Kamoun MR: A study of skin diseases in Tunis. An analysis of 28,244 dermatological outpatient cases. Acta Dermatovenerol Alp Panonica Adriat 2007;16:111–116.
Cherif F, Mnajja N, Feriani S, Ben Saïd ZM, Jaafoura MH, Dhahri AB, Boubaker S: Hereditary epidermolysis bullosa in Tunisia: an epidemio-clinical and ultrastructural study (in French). Arch Inst Pasteur Tunis 2005;82:53–58.
Chaabouni H, Nemsia J, Riou S, Largueche S, Ferchiou A: Les malformations congénitales: dépistage néonatal dans une maternité tunisienne (in French). Maghreb Med 1986;129:49–54.
Khrouf N, Spång R, Podgorna T, Miled SB, Moussaoui M, Chibani M: Malformations in 10,000 consecutive births in Tunis. Acta Paediatr Scand 1986;75:534–539.
Chaabouni M, Smaoui N, Benneji N, M’rad R, Jemaa LB, Hachicha S, Chaabouni H: Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family. Clin Dysmorphol 2005;14:23–25.
Fathallah DM, Bejaoui M, Lepaslier D, Chater K, Sly WS, Dellagi K: Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. Hum Genet 1997;99:634–637.
Smaoui N, Chaabouni M, Sergeev YV, Kallel H, Li S, Mahfoudh N, Maazoul F, Kammoun H, Gandoura N, Bouaziz A, Nouiri E, M’Rad R, Chaabouni H, Hejtmancik JF: Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. Invest Ophthalmol Vis Sci 2006;47:3487–3495.
Karboul L, Samoud A, Hammou A, Ben Dridi MF: Clinical aspects of Schwartz Jampel syndrome: 4 new familial case reports and review of the literature (in French). Tunis Med 1994;72:39–45.
Al Kaissi A, Biegansk T, Baranska D, Chehida FB, Gharbi H, Ghachem MB, Hendaoui L, Safi H, Kozlowski K: Robinow syndrome: report of two cases and review of the literature. Australas Radiol 2007;5:83–86.
Hadj-Rabia S, Salomon R, Pelet A, Penet C, Rotschild A, de Laet MH, Chaouachi B, Hannachi R, Bakiri F, Brauner R, Chaussain JL, Munnich A, Lyonnet S: Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome. Eur J Hum Genet 2000;8:613–620.
Al Kaissi A, Klaushofer K, Safi H, Chehida FB, Ghachem MB, Chaabounni M, Hennekam RC: Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? Am J Med Genet A 2007;143:349–354.
Chaabouni H, Meddeb M, Buresi C, Ben Jemaa L: Cytogenetic study of 500 patients selected in the research for chromosomal anomalies (in French). Tunis Med 1992;70:39–43.
Elghezal H, Hidar S, Braham R, Denguezli W, Ajina M, Saad A: Chromosome abnormalities in one thousand infertile males with nonobstructive sperm disorders. Fertil Steril 2006;86:1792–1795.
Chaabouni M, Turleau C, Karboul L, Jemaa LB, Maazoul F, Attié-Bitach H, Romana S, Chaabouni H: De novo trisomy 20p of paternal origin. Am J Med Genet A 2007;143:1100–1103.
Chaabouni H, Smaoui N, Maazoul F, Ben Jemaa L, M’Rad R: Etude épidémiologique et génétique de la trisomie 21 en Tunisie (in French). Tunis Med 1999;77:407–414.
Ben Arab S, Bonaïti-Pellié C, Belkahia A: An epidemiological and genetic study of congenital profound deafness in Tunisia (governorate of Nabeul). J Med Genet 1990;27: 29–33.
Ben Arab S, Masmoudi S, Beltaief N, Hachicha S, Ayadi H: Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness. Genet Epidemiol 2004;27:74–79.
Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C: A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 1994;6:24–28.
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Petit C, et al: Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6:2173–2177.
Tilli A, Männikkö M, Charfedine I, Lahmar I, Benzina Z, Ben Amor M, Driss N, Ala-Kokko L, Drira M, Masmoudi S, Ayadi H: A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2–22.3 in a large Tunisian consanguineous family. Hum Hered 2005;60:123–128.
Masmoudi S, Tlili A, Majava M, Ghorbel AM, Chardenoux S, Lemainque A, Zina ZB, Moala J, Männikkö M, Weil D, Lathrop M, Ala-Kokko L, Drira M, Petit C, Ayadi H: Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3–22.1. Eur J Hum Genet 2003;11:185–188.
Hmani M, Ghorbel A, Boulila-Elgaied A, Ben Zina Z, Kammoun W, Drira M, Chaabouni M, Petit C, Ayadi H: A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2. Eur J Hum Genet 1999;7:363–367.
Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H: Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. Am J Med Genet 2000;90:38–44.
Smaoui N, Beltaief O, Ben Hamed S, M’Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF: A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 2004;45:2716–2721.
Jemaa LB, des Portes V, Zemni R, Mrad R, Maazoul F, Beldjord C, Chaabouni H, Chelly J: Refined 2.7 centimorgan locus in Xp21.3–22.1 for a nonspecific X-linked mental retardation gene (MRX54). Am J Med Genet 1999;85:276–282.
Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Benjemaa L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, Van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Desportes V, Fryns JP, Beldjord C, Chelly J: ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002;11:981–991.
Trabelsi M, Elhammami A, Toumi N, Bousnina S, Boudhina T, Chaabouni H, Bennaceur B: Les sphingolipidoses chez l’enfant: à propos de 18 observations (in French). Tunis Med 1990;8:520–524.
Chaabouni M, Aoulou H, Tebib N, Hachicha M, Ben Becher S, Monastiri K, Yacoub M, Sfar T, Elloumi M, Chakroun N, Miled M, Ben Dridi MF: La maladie de Gaucher en Tunisie, étude multicentrique (in French). Rev Med Interne 2004;25:104–110.
Chaabouni H, Chaabouni M, Maazoul F, M’Rad R, Jemaa LB, Smaoui N, Terras K, Kammoun H, Belghith N, Ridene H, Oueslati B, Zouari F: Prenatal diagnosis of chromosome disorders in Tunisian population. Ann Genet 2001;44:99–104.
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