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

Research output: Contribution to journalArticle

  • External authors:
  • Dan Hanson
  • Philip G. Murray
  • Jill Urquhart
  • Sarah Daly
  • Sanjeev S. Bhaskar
  • Leslie G. Biesecker
  • Mars Skae
  • Claire Smith
  • Trevor Cole
  • Jeremy Kirk
  • Kate Chandler
  • Helen Kingston
  • Dian Donnai


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. © 2011 by The American Society of Human Genetics. All rights reserved.

Bibliographical metadata

Original languageEnglish
Pages (from-to)148-153
Number of pages5
JournalAmerican Journal of Human Genetics
Issue number1
Publication statusPublished - 15 Jul 2011

Related information