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

Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.

doi:i:10.1016/j.ajhg.2010.11.006

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

Klopocki, E., Lohan, S., Brancati, F., Koll, R., Brehm, A., Seemann, P., et al. (2011). Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. American Journal of Human Genetics, 88(1), 70-75. doi:i:10.1016/j.ajhg.2010.11.006.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-77D2-F Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-77D3-D

Genre: Journal Article

Alternative Title : Am J Hum Genet

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Creators:
Klopocki, E.¹, Author
Lohan, S., Author
Brancati, F., Author
Koll, R., Author
Brehm, A., Author
Seemann, P.¹, Author
Dathe, K., Author
Stricker, S.¹, Author
Hecht, J.¹, Author
Bosse, K., Author
Betz, R. C., Author
Garaci, F. G., Author
Dallapiccola, B., Author
Jain, M., Author
Muenke, M., Author
Ng, V. C., Author
Chan, W., Author
Chan, D., Author
Mundlos, S.¹, Author

Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557

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Free keywords: Animals; Conserved Sequence/genetics; Craniosynostoses/genetics; DNA Copy Number Variations; Female; Fingers/growth & development; Gene Duplication; Gene Expression Regulation, Developmental/genetics; Genetic Loci; Hedgehog Proteins/genetics; Humans; Male; Mice; Mice, Transgenic; Mutation; Skull/growth & development; Syndactyly/genetics

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.

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Language(s): eng - English

Dates: Date issued: 2011-01-07

Publication Status: Issued

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Identifiers: eDoc: 538366
URI: http://www.ncbi.nlm.nih.gov/pubmed/21167467
DOI: i:10.1016/j.ajhg.2010.11.006

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Title: American Journal of Human Genetics

Alternative Title : Am J Hum Genet

Source Genre: Journal

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Pages: - Volume / Issue: 88 (1) Sequence Number: - Start / End Page: 70 - 75 Identifier: ISSN: 0002-9297