Communicated by Peter Humphries
Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies†
Article first published online: 18 MAY 2010
© 2010 Wiley-Liss, Inc.
Volume 31, Issue 7, pages 781–787, July 2010
How to Cite
Wyatt, A. W., Osborne, R. J., Stewart, H. and Ragge, N. K. (2010), Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies. Hum. Mutat., 31: 781–787. doi: 10.1002/humu.21280
- Issue published online: 24 JUN 2010
- Article first published online: 18 MAY 2010
- Manuscript Accepted: 21 APR 2010
- Manuscript Received: 6 JAN 2010
- bone morphogenetic protein 7;
Bone morphogenetic protein (BMP) signaling regulates a range of cellular processes and plays an important role in the specification and patterning of the early embryo. However, due to the functional redundancy of BMP ligands and receptors in tissues where they are coexpressed, relatively little is known about the role of individual BMP ligands in human disease. Here we report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed in the developing eye, brain, and ear in human embryos in a manner consistent with the phenotype seen in our mutation cases. These data establish BMP7 as an important gene in human eye development, and suggest that BMP7 should be considered during clinical evaluation of individuals with developmental eye anomalies. Hum Mutat 31:1–7, 2010. © 2010 Wiley-Liss, Inc.