Novel ATP7A gene mutation in a patient with Menkes disease.

Abstract

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.

• Authors: Gabriela Caicedo-Herrera, Estephania Candelo, Juan Pinilla, Andrés Vidal, Santiago Cruz, Harry Mauricio Pachajoa
• Journal: The application of clinical genetics (Appl Clin Genet) Vol. 11 Pg. 151-155 ( 2018) ISSN: 1178-704X [Print] New Zealand
• PMID: 30538525 (Publication Type: Case Reports)