Studies on new mutations of ATP7A gene and Menkes Disease

Menkes disease is a congenital neurodegenerative disorder caused by ATP7A gene mutations. In our case, a boy with supposed movement neurological disorders was sequenced via whole-exome sequencing (WES), and this boy was diagnosed with Menkes disease. We identified a novel splicing mutation c.2782-1G>T (hemizygous) in ATP7A gene and according to the American College of Medical Genetics and Genomics (ACMG) guidelines it was categorized to be "likely pathogenic".