The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum

Abstract : Aims: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis.Methods:Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed by direct sequencing, while maternal-foetal contamination was checked by genotyping. Results: Among the 7 prenatal diagnoses, 4 foetuses were heterozygous for the screened mutation. Exclusion of contamination by maternal cells was checked. Mutations were detected at a homozygous state in the remaining cases, and the parents decided to terminate pregnancy. Conclusion: Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia. (C) 2013 S. Karger AG, Basel
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Article dans une revue
Public Health Genomics, 2013, 16 (5), pp.251 - 254. 〈10.1159/000354584〉
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Contributeur : Institut Pasteur Tunis <>
Soumis le : dimanche 2 octobre 2016 - 23:19:51
Dernière modification le : lundi 8 octobre 2018 - 17:44:08

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O. Messaoud, M. Ben Rekaya, M. Jerbi, I. Ouertani, R. Kefi, et al.. The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum. Public Health Genomics, 2013, 16 (5), pp.251 - 254. 〈10.1159/000354584〉. 〈pasteur-01375121〉

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