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Bone morphogenetic protein 7 ( BMP7 ) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies
Author(s) -
Wyatt Alexander W.,
Osborne Robert J.,
Stewart Helen,
Ragge Nicola K.
Publication year - 2010
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21280
Subject(s) - biology , missense mutation , bone morphogenetic protein , frameshift mutation , eye development , genetics , bone morphogenetic protein receptor , brachydactyly , bone morphogenetic protein 7 , mutation , bone morphogenetic protein 5 , phenotype , gene , endocrinology , short stature
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.