Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.

3-M syndrome, a primordial growth disorder, is associated with mutations in CUL7 and OBSL1. Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome. CCDC8 is a widely expressed gene that is transcriptionally associated to CUL7 and OBSL1, and coimmunoprecipitation indicates a physical interaction between CCDC8 and ...
OBSL1 but not CUL7. We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth.
Mesh Terms:
Cell Line, Child, Preschool, Cullin Proteins, Cytoskeletal Proteins, Dwarfism, Female, Gene Expression, Homozygote, Humans, Infant, Intellectual Disability, Male, Muscle Hypotonia, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Spine, Transcription Factors
Am. J. Hum. Genet.
Date: Jul. 15, 2011
Download Curated Data For This Publication
143149
Switch View:
  • Interactions 4