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

  title={A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome},
  author={Hiba Risheg and John M Graham and Robin Dawn Clark and Roger Curtis Rogers and John M Opitz and John B. Moeschler and Andreas Peiffer and Melanie M. May and Sumy M Joseph and Julie R. Jones and Roger E. Stevenson and Charles E. Schwartz and Michael J. Friez},
  journal={Nature Genetics},
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. 

A novel mutation in MED 12 causes FG syndrome ( Opitz – Kaveggia syndrome )

This is the first demonstration that other mutations in this gene can also lead to Opitz–Kaveggia syndrome, and a new family with three affected cousins is identified, in which a novel MED12 mutation (p.G958E) is identified.

A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome)

A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome) and further studies are needed to establish a causative mechanism.

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gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel

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Results of four studies in four different populations do not corroborate the findings of the previous study, and indicate that the HOPA dodecamer duplication does not convey an increased susceptibility to mental retardation.

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Three brothers and two of their male first cousins were affected with a previously apparently undefined multiple congenital anomaly, mental retardation syndrome which was designated the FG syndrome

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