Congenital Heart Defects in Patients with Deletions Upstream of SOX9

Marta Sanchez-Castro, Christopher T. Gordon, Florence Petit, Alexander Nord, Patrick Callier, Joris Andrieux, Patrice Guérin, Olivier Pichon, Albert David, Véronique Abadie, Damien Bonnet, Axel Visel, Len A. Pennacchio, Jeanne Amiel, Stanislas Lyonnet, Cédric Le Caignec

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


Heterozygous loss-of-function coding-sequence mutations of the transcription factor SOX9 cause campomelic dysplasia, a rare skeletal dysplasia with congenital bowing of long bones (campomelia), hypoplastic scapulae, a missing pair of ribs, pelvic, and vertebral malformations, clubbed feet, Pierre Robin sequence (PRS), facial dysmorphia, and disorders of sex development. We report here two unrelated families that include patients with isolated PRS, isolated congenital heart defect (CHD), or both anomalies. Patients from both families carried a very similar ∼1 Mb deletion upstream of SOX9. Analysis of ChIP-Seq from mouse cardiac tissue for H3K27ac, a marker of active regulatory elements, led us to identify several putative cardiac enhancers within the deleted region. One of these elements is known to interact with Nkx2.5 and Gata4, two transcription factors responsible for CHDs.

Original languageEnglish (US)
Pages (from-to)1628-1631
Number of pages4
JournalHuman Mutation
Issue number12
StatePublished - Dec 1 2013
Externally publishedYes


  • CNV
  • Congenital heart defect
  • Copy number variant
  • Pierre robin sequence
  • SOX9

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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