A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

@article{Pasquier2000ANM,
  title={A new mutation in the six-domain of SIX3 gene causes holoprosencephaly},
  author={L Pasquier and Christ{\'e}le Dubourg and Martine Blayau and Le{\"i}la Lazaro and Bernard Le Marec and V{\'e}ronique David and Sylvie Odent},
  journal={European Journal of Human Genetics},
  year={2000},
  volume={8},
  pages={797-800}
}
Holoprosencephaly (HPE) is a severe brain malformation which results from incomplete cleavage of the forebrain during early embryogenesis. The aetiology of HPE is very heterogeneous. Among the genetic factors, SIX3, which is considered to be the functional orthologue of Drosophila genes sine oculis (so) and optix, has been found to be mutated in the homeodomain, in some patients with HPE (HPE2 on chromosome 2p21). We report a new HPE family, presenting a wide spectrum of clinical features… CONTINUE READING