Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.

@article{Mller2000SimilarSM,
  title={Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.},
  author={Lisbeth Birk M\oller and Zeynep T{\"u}mer and Connie Lund and Carolyn Petersen and Trevor Cole and Ralf Hanusch and Joerg Seidel and Lars R Jensen and Nina Horn},
  journal={American journal of human genetics},
  year={2000},
  volume={66 4},
  pages={1211-20}
}
More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations lead to the classic form of Menkes disease (MD), and a few lead to the milder occipital horn syndrome (OHS). To get a better understanding of molecular changes leading to classic MD and OHS, we took advantage of the unique finding of three patients with similar mutations but different phenotypes. Although all three patients had mutations located in the splice-donor site of intron 6, only two of the… CONTINUE READING

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