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

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/21167467
Author: 
Mundlos S
Author List: 
Klopocki E
Lohan S
Brancati F
Koll R
Brehm A
Seemann P
Dathe K
Stricker S
Hecht J
Bosse K
Betz RC
Garaci FG
Dallapiccola B
Jain M
Muenke M
Ng VC
Chan W
Chan D
Mundlos S
Journal: 
Am J Hum Genet
PubMed ID: 
21167467
Pagination: 
70-5
Volume: 
88
Issue: 
1
Abstract: 
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.
Published Date: 
January, 2011

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