A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
H Risheg, JM Graham Jr, RD Clark, RC Rogers… - Nature …, 2007 - nature.com
H Risheg, JM Graham Jr, RD Clark, RC Rogers, JM Opitz, JB Moeschler, AP Peiffer, M May…
Nature genetics, 2007•nature.comOpitz-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.
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.
Abstract
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.
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