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.

中文翻译：

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一名日本典型的Menkes病患者的ATP7A基因中L718X的新突变，以及日本人群中的四种新的多态性。

Menkes病是由ATP7A基因突变引起的铜膜转运系统X连锁隐性疾病。尽管已经报道了ATP7A基因的各种突变，但是基因型-表型的相关性尚未明确定义。通过分析逆转录酶聚合酶链反应产物和ATP7A基因的基因组DNA，确定了日本典型Menkes病患者中ATP7A基因的新突变。发现无意义的突变L718X导致过早终止和不成熟的ATP7A蛋白，不太可能具有正常功能。因此，ATP7A基因的这种无意义的突变被认为在呈现经典的Menkes表型中起着致病作用。此外，四个新的多态性分别为C1535T（L464L），C2151T（T669I），G2253A（R703H），