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| Mendeliome v1.4623 | IHH upstream regulatory region |
Sarah Milton Region: IHH upstream regulatory region was added Region: IHH upstream regulatory region was added to Mendeliome. Sources: Literature Mode of inheritance for Region: IHH upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: IHH upstream regulatory region were set to PMID: 21167467 Phenotypes for Region: IHH upstream regulatory region were set to Craniosynostosis, Philadelphia type, with syndactyly, MIM#185900; Syndactyly, type 1, MIM#185900 Review for Region: IHH upstream regulatory region was set to GREEN Added comment: IHH belongs to the hedgehog family, and is required for endochondral bone formation by regulating the proliferation and differentiation of chondrocytes. During development IHH is predominantly expressed in prehypertrophic chondrocytes. PMID: 21167467 describes 3 families with over 80 affected individuals with duplications either including IHH or entirely upstream (in an intron of NHEJ1). These individuals were affected with variable degrees of cutaneous and distal osseus syndactyly and craniosynostosis. Authors identified duplications in affected families involving conserved non coding elements (either 1 or up to 3 in those with the largest duplications) and cloned an orthologous region into mouse with a fluorescent reporter vector and found staining of chondrocytes indicating this region was a possible enhancer. Note: OMIM uses coordinates chr2:208,200,001-230,100,000 for this duplication (maximal breakpoints). Minimal region overlap from literature used for Panelapp entry. Further functional studies required to define exact breakpoints. Sources: Literature |
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