Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

Eva Klopocki, Silke Lohan, Francesco Brancati, Randi Koll, Anja Brehm, Petra Seemann, Katarina Dathe, Sigmar Stricker, Jochen Hecht, Kristin Bosse, Regina C. Betz, Francesco Giuseppe Garaci, Bruno Dallapiccola, Mahim Jain, Maximilian Muenke, Vivian C W Ng, Wilson Chan, Danny Chan, Stefan Mundlos

Research output: Contribution to journalArticlepeer-review


Indian hedgehog (IHH) is a secreted signaling molecule of the hedgehog family known to play important roles in the regulation of chondrocyte differentiation, cortical bone formation, and the development of joints. Here, we describe that copy-number variations of the IHH locus involving conserved noncoding elements (CNEs) are associated with syndactyly and craniosynostosis. These CNEs are able to drive reporter gene expression in a pattern highly similar to wild-type Ihh expression. We postulate that the observed duplications lead to a misexpression and/or overexpression of IHH and by this affect the complex regulatory signaling network during digit and skull development.

Original languageEnglish
Pages (from-to)70-75
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number1
Publication statusPublished - Jan 7 2011

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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