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

• Published in: Community genetics Vol. 16; no. 5; pp. 251 - 254
• Main Authors: Messaoud, O., Rekaya, M. Ben, 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.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.01.2013; S. Karger
• Subjects: Abortion, Eugenic; Adult; Consanguinity; DNA Mutational Analysis; Female; Genetics; Heterozygote; Homozygote; Human genetics; Humans; Life Sciences; Mutation; Mutation - genetics; Original Paper; Pregnancy; Prenatal Diagnosis; Referral and Consultation; Tunisia; Xeroderma Pigmentosum - diagnosis; Xeroderma Pigmentosum - genetics; Tunisia; MED, Tunisia; Xeroderma pigmentosum; Prenatal diagnosis; Legal and religious issues
• ISSN: 1662-4246; 1662-8063
• DOI: 10.1159/000354584

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.