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.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: April 10, 2000 / Accepted: July 5, 2000
Rights and permissions
About this article
Cite this article
Ogawa, A., Yamamoto, S., Kanazawa, M. et al. Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population. J Hum Genet 45, 315–317 (2000). https://doi.org/10.1007/s100380070024
Published:
Issue Date:
DOI: https://doi.org/10.1007/s100380070024