We sought to determine the nature of the molecular defect causing Menkes' syndrome in the Chinese population. The DNA of four patients with typical Menkes manifestation was sequenced. Two pathologic genetic defects were identified; one of them is a nonsense mutation, whereas the other is a frameshift mutation. Both of these mutations are de novo. (J Child Neurol 2002;17:250-252).
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References
1.
Menkes Jhm, Alter M., Steigleder G., et al: A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebellar degeneration. Pediatrics1962;29:764-779.
Vulpe C., Levinson B., Whitney S., et al: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet1993;3:7-13.
4.
Odermatt AA, Suter H., Kragf R., et al: Primary structure of two P-type ATPase involved in copper homeostasis in Enterococcus hiae. J Biol Chem1993;268:12775-12777.
5.
Tumer Z., Lund C., Tolshave J., et al: Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet1997;60:63-71.
6.
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 Genet2000;45:315-317.
7.
Tumer Z., Horn N.: Menkes disease: Recent advances and new aspects. J Med Genet1997;34:265-274.
8.
Petris MJ, Camakaris J., Greenough M., et al: A C-terminal dileucine is required for localization of the Menkes protein in the trans-Golgi network. Hum Mol Genet1998;7:2063-2071.
9.
Goodyer ID, Jones EE, Monaco AP, Francis MJ: Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization. Hum Mol Genet1999;8: 1473-1478.
10.
Moller LB, Tumer Z., Lund C., et al: Similar splice-site mutations of the ATP7A gene lead to different phenotypes: Classical Menkes disease or occipital horn syndrome. Am J Hum Genet2000;66: 1211-1220.
11.
Das S., Levinson B., Whitney S., et al: Diverse mutations in patients with Menkes disease often led to exon skipping. Am J Hum Genet1994;55:883-889.
