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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
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Journal Article
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
2007
Overview
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Amino Acid Substitution - genetics
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Complications and side effects
/ Family
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Genes
/ Genetic Diseases, X-Linked - genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Humans
/ Intellectual Disability - genetics
/ Male
/ Mutation
/ Pedigree
/ Proteins
/ Receptors, Thyroid Hormone - genetics
/ Syndrome
/ Thyroid
