the t1048i mutation in atp7a gene causes an unusual menkes disease presentationt1048i atp7a基因突变导致疾病一个不寻常的门克斯表示.pdfVIP

The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation León-García et al. León-García et al. BMC Pediatrics 2012, 12:150 /1471-2431/12/150 León-García et al. BMC Pediatrics 2012, 12:150 /1471-2431/12/150 CASE REPORT Open Access The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation 1 2 3 4 Gregorio León-García , Alfredo Santana , Nicolás Villegas-Sepúlveda , Concepción Pérez-González , 4 5 1 1* José M Henrríquez-Esquíroz , Carlota de León-García , Carlos Wong and Isabel Baeza Abstract Background: The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease. Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease. The mutation affects a conserved DKTGT1048 phosphorylation motif that is involved in the catalytic activity of ATP7A. We also describe the clinical course and the response to copper treatment in this patient. Case presentation: An 11-month-old male Caucasian infant was studied because of hypotonia, ataxia and global developmental delay. The patient presented low levels of serum copper and ceruloplasmin, and was shown to be hemizygous for the p.T1048I mutation in ATP7A. The diagnosis was confirmed when the patient was 18 months old, and treatment with copper-histidinate (Cu-His)