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Prenatal diagnosis of PIBIDS
J B Savary1, F Vasseur, D Vinatier
1Laboratoire de Génétique Humaine, Pathologie Foetale (Pr. Deminatti), Faculté de Médecine, Lille, France.
Prenatal Diagnosis
|November 1, 1991
Summary
This study identified a severe DNA excision repair defect in a child with PIBIDS (Pterygium, Intellectual disability, Polyplegia, Ichthyosis, Deafness, and Skeletal dysplasia). Prenatal diagnosis confirmed the defect in the fetus, leading to pregnancy termination.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- The study investigates a family with a documented history of PIBIDS (Pterygium, Intellectual disability, Polyplegia, Ichthyosis, Deafness, and Skeletal dysplasia).
- DNA excision repair mechanisms are crucial for maintaining genomic stability.
Purpose of the Study:
- To investigate DNA excision repair capacity in a patient diagnosed with PIBIDS.
- To establish prenatal diagnostic methods for PIBIDS based on DNA repair function.
Main Methods:
- Assessing DNA excision repair activity in lymphocytes using residual repair activity measurements.
- Quantifying UV-induced unscheduled DNA synthesis in amniotic fluid cells and fetal fibroblasts.
Main Results:
- The index case exhibited significantly reduced DNA excision repair activity (10.6-12.1%).
- Prenatal diagnosis in the fetus showed defective DNA repair (12.5-26.1%), consistent with PIBIDS.
- Post-termination fetal fibroblasts confirmed a severe DNA repair defect (9.2-13.5%).
Conclusions:
- A severe defect in DNA excision repair is a hallmark of PIBIDS.
- UV-induced unscheduled DNA synthesis is a reliable method for prenatal diagnosis of PIBIDS.
- Early diagnosis and genetic counseling are vital for affected families.