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

O. Messaoud (1) , M. Ben Rekaya (1) , M. Jerbi (1) , I. Ouertani (2) , R. Kefi (1) , N. Laroussi (1) , Y. Bouyacoub (1) , S. Benfadhel (1) , H. Yacoub-Youssef (1) , S. Boubaker (1) , M. Zghal (3) , R. Mrad (2) , A. Amouri (1) , S. Abdelhak (1)

1 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
2 Service de génétique [Rouen]
3 Service de dermatologie [Rouen]

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

Mots clés: Legal and religious issues; Prenatal diagnosis; Xeroderma pigmentosum

Domaines: Sciences du Vivant [q-bio]; Génétique humaine

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⟩