title: [Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].
abstract: 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.
  
  
  CONCLUSIONS
  The clinical features and a novel mutation of the ATP7A gene of the family have been delineated.
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China. shixiaorong1@163.com.
authors.forename: Xiaorong
authors.initials: X
authors.lastname: Shi
authors.forename: Xi
authors.initials: X
authors.lastname: Lin
authors.forename: Zhonglin
authors.initials: Z
authors.lastname: Ke
authors.forename: Shuqing
authors.initials: S
authors.lastname: Chen
authors.forename: Bin
authors.initials: B
authors.lastname: Wu
authors.forename: Guiling
authors.initials: G
authors.lastname: Mo
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics*; D002681:China; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases