title: The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia.
authors.affiliation: Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia.
authors.forename: O
authors.initials: O
authors.lastname: Messaoud
authors.forename: M
authors.initials: M
authors.lastname: Ben Rekaya
authors.forename: M
authors.initials: M
authors.lastname: Jerbi
authors.forename: I
authors.initials: I
authors.lastname: Ouertani
authors.forename: R
authors.initials: R
authors.lastname: Kefi
authors.forename: N
authors.initials: N
authors.lastname: Laroussi
authors.forename: Y
authors.initials: Y
authors.lastname: Bouyacoub
authors.forename: S
authors.initials: S
authors.lastname: Benfadhel
authors.forename: H
authors.initials: H
authors.lastname: Yacoub-Youssef
authors.forename: S
authors.initials: S
authors.lastname: Boubaker
authors.forename: M
authors.initials: M
authors.lastname: Zghal
authors.forename: R
authors.initials: R
authors.lastname: Mrad
authors.forename: A
authors.initials: A
authors.lastname: Amouri
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012017:Referral and Consultation; D014416:Tunisia; D014983:Xeroderma Pigmentosum / Q000175:diagnosis* / Q000235:genetics