A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

@article{Risheg2007ARM,
  title={A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome},
  author={Hiba Risheg and J. Graham and R. Clark and R. C. Rogers and J. Opitz and J. Moeschler and Andreas Peiffer and M. May and Sumy M Joseph and Julie R. Jones and R. Stevenson and C. Schwartz and M. Friez},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={451-453}
}
Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in MED12 (also called TRAP230 or HOPA), a gene located at Xq13 that functions as a thyroid receptor–associated protein in the Mediator complex. 
MED13L loss‐of‐function variants in two patients with syndromic Pierre Robin sequence
Mutations in MED12 cause X-linked Ohdo syndrome.
Two male sibs with severe micrognathia and a missense variant in MED12.
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
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References

SHOWING 1-10 OF 16 REFERENCES
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
The FG syndrome: Report of a large Italian series
A gene for FG syndrome maps in the Xq12-q21.31 region.
The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney.
...
1
2
...