Novel ATP7A gene mutation in a patient with Menkes disease

Abstract

Gabriela Caicedo-Herrera,1 Estephania Candelo,1 Juan Pinilla,2 Andrés Vidal,2 Santiago Cruz,3 Harry Mauricio Pachajoa1–4 1Health Sciences Faculty, Universidad Icesi, Cali, Colombia; 2Dermatology, Fundación Valle Del Lili, Cali, Colombia; 3Paediatric Neurology, Fundación Valle Del Lili, Cali, Colombia; 4Department of Genetics, Fundación Valle Del Lili, Cali, Colombia Background: Menkes disease is a congenital neurodegenerative disorder caused by ATP7A gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities.  Case presentation: We describe an infant with developmental delay, neurologic degeneration, and kinky hair. Molecular test revealed a novel heterozygous mutation in exon 21 of the ATP7A gene. The genotype and phenotype of the patient were compared with those of the patients reported in the literature.  Conclusion: We propose that this mutation caused a dysfunctional protein resulting in classical Menkes disease. This case adds to the spectrum of pathogenic variants of the ATP7A gene known to cause disease. Keywords: Menkes disease, ATP7A gene, copper-transporting ATPasa, genodermatosis

Keywords

• Menkes disease
• ATP7A gene
• Copper-transporting ATPasa
• Genodermatosis