Clinical and laboratory features and gene diagnosis of Menkes disease

Abstract

Objective To explore the clinical and laboratory features, and gene diagnosis method of Menkes disease(MD). Methods The clinical and laboratory features and gene diagnosis method of 2 infants with MD were reviewed. Results (1)Clinical features: both infants mentioned in this article were male.Their clinical manifestations were both began at 3-4 months age, including peculiar kinky hair, pale skin, pudgy cheeks, inguinal hernia, vessel abnormality, epilepsy and mental retardation.(2)Laboratory features: the ceruloplasmin concentrations significantly reduced to be T.The pathogenicity of this mutation had not been reported previously at home and abroad.The sequencing of the gene panel without pathogenic mutation was detected in case 2.But the multiplex ligation-dependent probe amplification test showed a gross deletion of ATP7A gene containing 8-12 exons.This mutation had been documented as a pathogenic mutation of MD.Both mothers of 2 patients were heterozygous mutation car-riers of normal phenotype. Conclusions MD is a multisystemic disease caused by ATP7A gene mutation resulting in copper metabolism disorder.MD is inherited as an X-linked recessive trait.MD is characterized by kinky hair, connective tissue abnormalities and progressive neurodegeneration.Clinical diagnosis can be made on the basis of clinical features, findings of blood biochemical examination, and radiological findings.Gene sequencing and multiplex ligation-dependent probe amplification test are the main technique widely used for genetic diagnosis. Key words: Menkes disease; Ceruloplasmin; ATP7A; Multiplex ligation-dependent probe amplification