Objective: To explore the clinical characteristics and genetic basis for a pedigree affected with propionic acidemia.
Methods: Trio whole exome sequencing (WES) was used to screen potential variants in the proband and his parents. Sanger sequencing was carried out for the elder sister of the proband, and prenatal diagnosis was carried out at 18th gestational week upon the next pregnancy of his mother.
Results: Two novel heterozygous variants, PCCA c.1845+1G>A and c.446delA, were detected by WES, for which his father and mother were respectively heterozygous carriers. His elder sister also inherited the PCCA c.1845+1G>A variant from her father, while the fetus was heterozygous for the PCCA c.1845+1G>A variant. Above results were confirmed by Sanger sequencing.
Conclusion: Identification of the PCCA c.1845+1G>A and c.446delA variants by WES has facilitated genetic counseling and prenatal diagnosis for this family.