title: [Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk].
abstract: Menkes disease is a rare X-linked recessive disorder characterized by multi-systemic disorder of copper deficiency caused by ATP7A gene mutation. In this study, the clinical and laboratory features of three patients with Menkes disease were analyzed. Prenatal diagnosis had been performed for a fetus of a family. Three patients were admitted at the age of 8-9 months due to severe epilepsies and marked delayed psychomotor development. Significantly light complexion, pudgy cheeks and sparse fuzzy wooly hair were observed. On their cranial MR imaging, cortical atrophy, leukoencephalopathy, basal ganglia damage and tormesity of the intracranial vessels were found. Their plasma ceruloplasmin decreased to 70.2, 73.5 and 81 mg/L, significantly lower than normal range (210-530 mg/L). c.3914A>G (p. D1305G) was detected on ATP7A gene of case 1 and 2. A novel mutation, c.3265G>T (p.G1089X) was found in case 3. Both of them were firstly found in Chinese patients of Menkes disease. The mother of case 1 was tested at 20 weeks of pregnancy. Karyotype and ATP7A gene studies of the amniocytes were performed for the prenatal diagnosis of her fetus. Normal male karyotypes without c.3914A>G mutation on ATP7A gene was showed. Postnatal genetic analysis and normal development confirmed the prenatal diagnosis.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. organic.acid@126.com.
authors.forename: Qiao
authors.initials: Q
authors.lastname: Wang
authors.forename: Yuan
authors.initials: Y
authors.lastname: Ding
authors.forename: Jing-Min
authors.initials: JM
authors.lastname: Wang
authors.forename: Qiong-Hui
authors.initials: QH
authors.lastname: Huang
authors.forename: Cheng-Feng
authors.initials: CF
authors.lastname: Zhao
authors.forename: Yu-Peng
authors.initials: YP
authors.lastname: Liu
authors.forename: Xi-Yuan
authors.initials: XY
authors.lastname: Li
authors.forename: Tong-Fei
authors.initials: TF
authors.lastname: Wu
authors.forename: Jin-Qing
authors.initials: JQ
authors.lastname: Song
authors.forename: Yu-Jie
authors.initials: YJ
authors.lastname: Wang
authors.forename: Yan-Ling
authors.initials: YL
authors.lastname: Yang
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D011296:Prenatal Diagnosis
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases