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

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

  • Am J Hum Genet. 2011 Jul 15;89(1):148-53. doi: 10.1016/j.ajhg.2011.05.028.
Dan Hanson 1,  Philip G Murray,  James O'Sullivan,  Jill Urquhart,  Sarah Daly,  Sanjeev S Bhaskar,  Leslie G Biesecker,  Mars Skae,  Claire Smith,  Trevor Cole,  Jeremy Kirk,  Kate Chandler,  Helen Kingston,  Dian Donnai,  Peter E Clayton,  Graeme C M Black
Affiliations

Affiliation

  • 1 Department of Endocrinology, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, UK. graeme.black@manchester.ac.uk
PMID: 21737058 DOI: 10.1016/j.ajhg.2011.05.028
Abstract

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.

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