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Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism

Abstract

Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws1 followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.

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Figure 1: Cherubism phenotype and mutations.
Figure 2: Expression of SH3BP2.

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Acknowledgements

We thank the families for their support and participation. We also thank Q. Feng and R. Kassollja for their technical assistance; F. Dewhirst, S. Boches and J. Galvin for assistance with sequencing; and G.D. Roodman for generously providing human osteoclast RNA. This study was supported in part by grants from Aventis and NIH (AR36819 and AR36820) to B.R.O.

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Correspondence to Ernst Reichenberger.

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Ueki, Y., Tiziani, V., Santanna, C. et al. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet 28, 125–126 (2001). https://doi.org/10.1038/88832

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