Novel ATP7A gene mutation in a patient with Menkes disease
Received 13 July 2018
Accepted for publication 10 October 2018
Published 22 November 2018 Volume 2018:11 Pages 151—155
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 3
Editor who approved publication: Prof. Dr. Martin H. Maurer
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
This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.Download Article [PDF] View Full Text [HTML][Machine readable]