Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia

Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia

Propionic Acidemia (PA) is an inborn error of metabolism caused by variants in the PCCA or PCCB genes, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here, we report a 2 year-old Egyptian boy with PA who was born to consanguineous parents. Biochemical analysis was perfor...

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Bibliographic Details
Main Authors: Ali Zaki Ibrahim, D. Thirumal Kumar, Taghreed Abunada, Salma Younes, C. George Priya Doss, Osama K. Zaki, Hatem Zayed
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Propionic acidemia (PA)
PCCA gene
Next-generation sequencing
Computational analysis
Genotype-phenotype correlation
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300914

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http://www.sciencedirect.com/science/article/pii/S2214426920300914

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