title: Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population.
abstract: Menkes disease is an X-linked recessive disorder of the copper membrane transport system caused by mutations in the ATP7A gene. While various mutations in the ATP7A gene have been reported, a genotype-phenotype correlation has not been clearly defined. A novel mutation in the ATP7A gene in a Japanese patient with classical Menkes disease was identified via analysis of reverse-transcriptase polymerase chain reaction products and genomic DNA of the ATP7A gene. The nonsense mutation, L718X, was found to result in premature termination and immature ATP7A protein, unlikely to have normal functioning. Therefore, this nonsense mutation of the ATP7A gene is proposed to play a causative role in presenting the classical Menkes phenotype. Furthermore, four novel polymorphisms, C1535T (L464L), C2151T (T669I), G2253A (R703H), and C3677T (H1178Y) were also identified.
authors.affiliation: Department of Pediatrics, Chiba University School of Medicine, Japan. aogawa@pediat3.m.chiba-u.ac.jp
authors.forename: A
authors.initials: A
authors.lastname: Ogawa
authors.forename: S
authors.initials: S
authors.lastname: Yamamoto
authors.forename: M
authors.initials: M
authors.lastname: Kanazawa
authors.forename: E
authors.initials: E
authors.lastname: Ogawa
authors.forename: M
authors.initials: M
authors.lastname: Takayanagi
authors.forename: S
authors.initials: S
authors.lastname: Hasegawa
authors.forename: Y
authors.initials: Y
authors.lastname: Kohno
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D002648:Child; D018389:Codon, Nonsense; D000073840:Copper-Transporting ATPases; D004247:DNA; D006580:Genetic Carrier Screening; D006801:Humans; D007564:Japan; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000208:ethnology / Q000235:genetics*; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011993:Recombinant Fusion Proteins
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D018389:Codon, Nonsense; D011993:Recombinant Fusion Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases