[Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].

OBJECTIVE: To delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease.

METHODS: Clinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene.

RESULTS: The patient was admitted at the age of 5 months due to severe epilepsy and marked delayed psychomotor development. Significantly light complexion, pudgy cheeks and sparse fuzzy wooly hair were noted. Cranial magnetic resonance imaging and angiography revealed cortical atrophy, leukoencephalopathy and circuitous of intracranial vessels. The plasma ceruloplasmin was decreased. MLPA has identified a deletion spanning exons 8 to 12 of the ATP7A gene. His mother was found to be a heterozygous carrier of the same mutation.

CONCLUSION: The clinical features and a novel mutation of the ATP7A gene of the family have been delineated.