Public Health Genomics · 2013 · 11 citations · 8 references
MedicineGeneticsMolecular GeneticsGenodermatosesMolecular DiagnosticsPrenatal DiagnosisDna SequencingGenetic DisordersPrenatal Genetic DiagnosisPrenatal Molecular TestingSequencing-based DiagnosticsSyndromic GenodermatosesMaternal Contamination AnalysisMaternal Contamination AssessmentMolecular Prenatal DiagnosisMutationNext-generation Sequencing-based DiagnosisPrenatal GenotypingPrenatal Molecular DiagnosisXeroderma Pigmentosum
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.
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The genetics of the hereditary xeroderma pigmentosum syndrome
Anne Stary, Alain Sarasin · Biochimie · 2002 · 90 citations