Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.

@article{Portes2004SpecificCA,
  title={Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.},
  author={Vincent des Portes and Nathalie Boddaert and Silvia Sacco and Sylvain Briault and Kim Maincent and Nadia Bahi and M. Gomot and Nathalie Ronce and Joseph Bursztyn and Catherine Adamsbaum and Monica Zilbovicius and Jamel Chelly and Claude Moraine},
  journal={American journal of medical genetics. Part A},
  year={2004},
  volume={124A 4},
  pages={364-71}
}
Oligophrenin-1 (OPHN-1) gene disruption is known as responsible for so called "non-specific" X-linked mental retardation (MR) Billuart et al. [1998: Nature 392:923-926]. In order to search for a possible specific clinical and radiological profile for mutation in the OPHN-1 gene, clinical and 3D brain MRI studies were performed in the two families with a known mutation in OPHN-1 reported so far: a 19-year-old female with an X;12 balanced translocation encompassing OPHN-1, and four affected males… CONTINUE READING