Mucopolysaccharidoses type I and IVA: Clinical features and consanguinity in Tunisia

Pathologie Biologie

Volumn 57, Issue 5, 2009, Pages 392-397

  Khedhiri, S ^a   Chkioua, L ^a   Bouzidi, H ^a   Dandana, A ^a   Ben Turkia, H ^b   Miled, A ^a   Laradi, S ^b  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b LA RABTA HOSPITAL   (Tunisia)

Author keywords

Clinical and molecular analyses; Consanguinity; First cousin degree; Mucopolysaccharidosis type I; Mucopolysaccharidosis type IVA; Tunisian families

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; DISEASE SEVERITY; EXON; FAMILY; FEMALE; GENE MUTATION; HUMAN; HURLER SYNDROME; INTRON; MALE; MOLECULAR GENETICS; MORQUIO SYNDROME; MORQUIO SYNDROME TYPE A; PHENOTYPE; PRESCHOOL CHILD; QUESTIONNAIRE; TUNISIA;

ADOLESCENT; CHILD; CHONDROITINSULFATASES; CONSANGUINITY; EXONS; FATAL OUTCOME; FEMALE; HUMANS; IDURONIDASE; INFANT; INTRONS; MALE; MUCOPOLYSACCHARIDOSIS I; MUCOPOLYSACCHARIDOSIS IV; PEDIGREE; PHENOTYPE; TUNISIA;

EID: 67649208948     PISSN: 03698114     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.patbio.2008.05.005     Document Type: Article

References (33)

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The metabolic and molecular bases of inherited disease, 8th edn. New York: McGraw-Hill; 2001: 3421-52.
2. Matalon R., Arbogast B., Justice P., Brandt I.K., and Dorfman A. Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase. Biochem Biophys Res Commun 61 (1974) 759-765
3. Morquio L. On a form of familial osseous dystrophy. Bull Soc Pediatr 27 (1929) 145-152
4. Maroteaux P., and Lamy M. Studying the mucopolysaccharidoses. Lancet 2 (1967) 510
5. Beck M., Glossl J., Grubisic A., and Spranger J. Heterogeneity of Morquio disease. Clin Genet 29 4 (1986) 325-331
6. Laradi S., Tukel T., Erazo M., Shabeer J., Chkioua L., Khedhiri S., et al. Mucopolysaccharidosis I: alpha-l-Iduronidase mutations in three Tunisian families. J Inherit Metab Dis 28 (2005) 1019-1026
7. Laradi S., Tukel T., Khediri S., Shabeer J., Erazo M., Chkioua L., et al. Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients. Mol Genet Metab 87 (2006) 213-218
8. Laradi S., Monastiri K., Ferchichi S., Nabli N., Aouini Rea P., Ben Limam H., et al. Clinico-biologic and molecular study of mucopolysaccharidosis in central and southern Tunisia. Ann Biol Clin 59 (2001) 100-104
9. Poorthuis B.J., Wevers R.A., Kleijer W.J., Groener J.E., de Jong J.G., van Weely S., et al. The frequency of lysosomal storage diseases in the Netherlands. Hum Genet 105 (1999) 151-156
10. Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 101 (1997) 355-358
11. Neufeld E.F., and Muenzer J. The mucopolysaccharidoses. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular basis of inherited disease. 7th ed (1995), MC Graw-Hil, New York 2465-2494
12. Meikle P.J., Hopwood J.J., Clague A.E., and Carey W.F. Prevalence of lysosomal storage disorders. JAMA 281 (1999) 249-254
13. Tomatsu S., Montano A.M., Nishioka T., Gutierrez M.A., Pena O.M., Tranda Firescu G.G., et al. Mutation and polymorphism spectrum of the GALNS gene in Mucopolysaccharidosis IV A (Morquio A). Hum Mutat 26 (2005) 500-512
14. Pinto R., Caseiro C., Lemos M., Lopes L., Fontes A., Ribeiro H., et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 12 (2004) 87-92
15. Teebi A.S., and El-Shanti H.I. Consanguinity: implications for practice, research, and policy. The Lancet 367 (2006) 970-971
16. In: Teebi A.S., and Farag T.I. (Eds). Genetic disorders among Arab populations. 1st edn (1997), Oxford University Press, New York
17. Hoodfar E., and Teebi A.S. Genetic referrals of Middle-Eastern origin in a western city: inbreeding and disease profile. J Med Genet 33 (1996) 212-215
18. Riou S., El Younsi C., and Chaabouni H. Consanguinity in the population of northern Tunisia. Tun Med 67 (1989) 167-172
19. Ben M'rad L., and Chalbi N. Is the matrimonial choice transmettable in Tunisia?. Antropo 7 (2004) 31-37
20. Ben Arab S., Masmoudi S., Beltaief N., Hachicha S., and Ayadi H. Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness. Genet Epidemiol 27 (2004) 74-79
21. Al-Gazali L.I., Bener A., Abdulrrazaq Y.M., Micallef R., Al-Khayat A.I., and Gaber T. Consanguineous marriages in the United Arab Emirates. J Biosoc Sci 29 (1997) 491-497
22. Saha N., and El Sheikh F.S. Inbreeding levels in Khartoum. J Biosoc Sci 20 (1988) 333-336
23. Benallegue A., and Kedji F. Consanguinity and public health. Algerian study. Arch Fr Pediatr 41 (1984) 435-440
24. Mokhtar M.M., Kotb S.M., and Ismail S.R. Autosomal recessive disorders among patients attending the genetics clinic in Alexandria. East Mediterr Health J 4 (1998) 470-479
25. Hafez M., El-Tahan H., Awadalla M., El-Khayat H., Abdel-Gafar A., and Ghoneim M. Consanguineous matings in the Egyptian population. J Med Genet 20 (1983) 58-60
26. Alwan A, Modell B. Community control of genetic and congenital disorders. Alexandria, World Health Organization Regional Office for the Eastern Mediterranean, 1997 (EMRO Technical Publications Series, No. 24).
27. Bouchlaka Ch, Abdelhak S., Amouri A., Ben Abid H., Hadiji S., Frikha M., et al. Fanconi anemia in Tunisia: High prevalence of group A and identification of new FANCA mutations. J Hum Genet 48 (2003) 352-361
28. Haj Khelil A., Laradi S., Miled A., Tadmouri G.O., Ben Chibani J., and Perrin P. Clinical and molecular aspects of hemoglobinopathies in Tunisia. Clin Chim Acta 340 (2004) 127137
29. Alif N., Hess K., Straczek J., Sebbar S., N'Bou A., NabetP, et al. Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects. Ann Hum Genet 63 Pt1 (1999) 9-16
30. Scott H.S., Litjens T., Nelson P.V., Brooks D.A., Hopwood J.J., and Morris C.P. Alpha-Liduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Hum Mutat 1 4 (1992) 333-339
31. Charfeddine C., Mokni M., Ben Mousli R., Elkares R., Bouchlaka C., Boubaker S., et al. A novel missense mutations in the encoding SLURP-1 in patients with Mal de Meleda from northern Tunisie. Br J Dermatol 149 (2003) 1108-1115
32. Schull W.J., Nagano H., Yamamoto M., and Komatsu I. The effects of parental consanguinity and inbreeding in Hirado, Japan. I. Stillbirths and prereproductive mortality. Am J Hum Genet 22 (1970) 239-262
33. De Costa C. Pregnancy outcomes in Lebanese-born women in Western Sydney. Med J Aust 149 (1988) 457-460