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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.

SUBMITTER: Caicedo-Herrera G

PROVIDER: S-EPMC6254535 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Novel <i>ATP7A</i> gene mutation in a patient with Menkes disease.

Caicedo-Herrera Gabriela G Candelo Estephania E Pinilla Juan J Vidal Andrés A Cruz Santiago S Pachajoa Harry Mauricio HM

The application of clinical genetics 20181122

<h4>Background</h4>Menkes disease is a congenital neurodegenerative disorder caused by <i>ATP7A</i> gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities.<h4>Case presentation</h4>We describe an infant with developmental delay, neurologic degeneration, and kinky hair. Molecular test revealed a novel heterozygous mutation in exon 21 of the <i>ATP7A</i> gene. The genotype and phenotype of the patient were c ...[more]

PMID: 30538525

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