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-blind
Peer reviewers approved by Dr Colin Mak
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
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