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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https://hal-riip.archives-ouvertes.fr/pasteur-01375121
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Submitted on : Sunday, October 2, 2016 - 11:19:51 PM
Last modification on : Thursday, July 25, 2019 - 2:24:50 PM

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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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