Molecular pathology of copper metabolism: Mutation screening in the ATP7A gene in Czech patients with Menkes disease ‐ identification of two novel mutations

• DOI: 10.1096/fasebj.20.4.a98
• Publication Date: 2021-06-21T21:35:55Z
• Authors: Lubomir Kralik; Eva Flachsova; Jiri Zeman; Pavel Martasek
• Keywords: Menkes disease; ATP7A; Nonsense mutation; genomic DNA; Copper deficiency

Menkes disease is one of the inborn disorders copper metabolism. It an X-linked recessive caused by a defect in (ATP7A) gene which spans about 140 kb genomic DNA and contains 23 exons that encode 1500 amino acid long transmembrane copper-transporting P-type ATPase. Affected males suffer from systemic deficiency due to malabsorption defective distribution dietary resulting connective-tissue disturbance profound neurodegeneration early childhood. In this study, mutational analysis patients with Czech Republic was performed. Genomic three unrelated investigated for mutations ATP7A using direct sequencing method all amplified PCR. The restriction fragment length polymorphism assay established each identified mutation. Three nonsense were found gene: Q724X, E1249X Q1288X. two mutation Q724X not previously published. These are predicted result premature termination protein. present findings only helps us understanding underlying genetic but invaluable data especially carrier detection prenatal diagnosis lethal disorder. (Supported grant MSM 0021620806)