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- Title
The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum.
- Authors
Messaoud, O.; Ben Rekaya, M.; Jerbi, M.; Ouertani, I.; Kefi, R.; Laroussi, N.; Bouyacoub, Y.; Benfadhel, S.; Yacoub-Youssef, H.; Boubaker, S.; Zghal, M.; Mrad, R.; amouri, a.; abdelhak, S.
- 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. © 2013 S. Karger AG, Basel
- Subjects
XERODERMA pigmentosum; OBSTETRICAL diagnosis; SKIN disease genetics; SKIN abnormalities; FETAL monitoring; PRENATAL diagnosis
- Publication
Public Health Genomics, 2013, Vol 16, Issue 5, p251
- ISSN
1662-4246
- Publication type
Article
- DOI
10.1159/000354584