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Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia
S Muro1, C Perez-Cerdá, P Roddríguez-Pombo
1Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, CBMSO, Universidad Autónoma de Madrid, Spain.
Insights
Prenatal diagnosis of propionic acidaemia (PA) is now possible using DNA analysis of chorionic villus samples. This genetic testing also allows for carrier status assessment in families affected by PA, which was previously challenging with biochemical methods.
Area of Science:
- Biochemistry
- Genetics
- Medical Genetics
Background:
- Propionic acidaemia (PA) is an inherited metabolic disorder.
- It results from a deficiency in propionyl-CoA carboxylase (PCC), an enzyme crucial for amino acid metabolism.
- Mutations in the PCCA or PCCB genes underlie PA.
Observation:
- A family with a proband diagnosed with PA was studied.
- The proband carried specific mutations (c1170insT and L519P) in the PCCB gene.
- Prenatal diagnosis was performed on a fetus using chorionic villus tissue.
Findings:
- The study successfully achieved prenatal diagnosis of PA in a fetus via DNA analysis.
- Carrier status for PA was determined in family members using genetic testing.
- This genetic approach proved more effective than biochemical analysis for carrier assessment in this family.
Implications:
- Enables early detection of propionic acidaemia during pregnancy.
- Facilitates comprehensive genetic counseling and family planning for affected individuals.
- Advances the diagnostic capabilities for inherited metabolic disorders, improving patient management.
Abstract:
Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the alpha and beta subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene. Here we report the prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue. We have also assessed the carrier status in this PCCB deficient family, which was not possible with biochemical analysis.