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Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.
J Hum Genet 2003; 48(7):352-61JH

Abstract

Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. Fanconi anemia is genetically heterogeneous, with at least eight distinct complementation groups of FA (A, B, C, D1, D2, E, F, and G) having been defined by somatic cell fusion studies. Six genes (FANCA, FANCC, FANCD2, FANCE, FANCG, and FANCF) have been cloned. Mutations of the seventh Fanconi anemia gene, BRCA2, have been shown to lead to FAD1 and probably FAB groups. In order to characterize the molecular defects underlying FA in Tunisia, 39 families were genotyped with microsatellite markers linked to known FA gene. Haplotype analysis and homozygosity mapping assigned 43 patients belonging to 34 families to the FAA group, whereas one family was probably not linked to the FANCA gene or to any known FA genes. For patients belonging to the FAA group, screening for mutations revealed four novel mutations: two small homozygous deletions 1693delT and 1751-1754del, which occurred in exon 17 and exon 19, respectively, and two transitions, viz., 513G-->A in exon 5 and A-->G at position 166 (IVS24+166A-->G) of intron 24. Two new polymorphisms were also identified in intron 24 (IVS24-5G/A and IVS24-6C/G).

Authors+Show Affiliations

Laboratoire d'Immunologie, Vaccinologie et Génétique Moléculaire, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, 1002 Tunis Belvédère, Tunisia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12827451

Citation

Bouchlaka, Chiraz, et al. "Fanconi Anemia in Tunisia: High Prevalence of Group a and Identification of New FANCA Mutations." Journal of Human Genetics, vol. 48, no. 7, 2003, pp. 352-61.
Bouchlaka C, Abdelhak S, Amouri A, et al. Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. J Hum Genet. 2003;48(7):352-61.
Bouchlaka, C., Abdelhak, S., Amouri, A., Ben Abid, H., Hadiji, S., Frikha, M., ... Dellagi, K. (2003). Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. Journal of Human Genetics, 48(7), pp. 352-61.
Bouchlaka C, et al. Fanconi Anemia in Tunisia: High Prevalence of Group a and Identification of New FANCA Mutations. J Hum Genet. 2003;48(7):352-61. PubMed PMID: 12827451.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. AU - Bouchlaka,Chiraz, AU - Abdelhak,Sonia, AU - Amouri,Ahlem, AU - Ben Abid,Hela, AU - Hadiji,Sondes, AU - Frikha,Mounir, AU - Ben Othman,Tarek, AU - Amri,Fethi, AU - Ayadi,Hammadi, AU - Hachicha,Mongia, AU - Rebaï,Ahmed, AU - Saad,Ali, AU - Dellagi,Koussay, AU - ,, Y1 - 2003/06/24/ PY - 2003/03/03/received PY - 2003/04/19/accepted PY - 2003/6/27/pubmed PY - 2003/10/8/medline PY - 2003/6/27/entrez SP - 352 EP - 61 JF - Journal of human genetics JO - J. Hum. Genet. VL - 48 IS - 7 N2 - Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. Fanconi anemia is genetically heterogeneous, with at least eight distinct complementation groups of FA (A, B, C, D1, D2, E, F, and G) having been defined by somatic cell fusion studies. Six genes (FANCA, FANCC, FANCD2, FANCE, FANCG, and FANCF) have been cloned. Mutations of the seventh Fanconi anemia gene, BRCA2, have been shown to lead to FAD1 and probably FAB groups. In order to characterize the molecular defects underlying FA in Tunisia, 39 families were genotyped with microsatellite markers linked to known FA gene. Haplotype analysis and homozygosity mapping assigned 43 patients belonging to 34 families to the FAA group, whereas one family was probably not linked to the FANCA gene or to any known FA genes. For patients belonging to the FAA group, screening for mutations revealed four novel mutations: two small homozygous deletions 1693delT and 1751-1754del, which occurred in exon 17 and exon 19, respectively, and two transitions, viz., 513G-->A in exon 5 and A-->G at position 166 (IVS24+166A-->G) of intron 24. Two new polymorphisms were also identified in intron 24 (IVS24-5G/A and IVS24-6C/G). SN - 1434-5161 UR - https://www.unboundmedicine.com/medline/citation/12827451/Fanconi_anemia_in_Tunisia:_high_prevalence_of_group_A_and_identification_of_new_FANCA_mutations_ L2 - http://www.diseaseinfosearch.org/result/2780 DB - PRIME DP - Unbound Medicine ER -