Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

Tan, Tiong Yang; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J; et al; Steindl, Katharina; Joset, Pascal; Rauch, Anita

doi:10.5167/uzh-192471

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Tan, T. Y., Gonzaga-Jauregui, C., Bhoj, E. J., et al, Steindl, K., Joset, P., & Rauch, A. (2017). Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. American Journal of Human Genetics, 101, 985–994. https://doi.org/10.1016/j.ajhg.2017.10.006

Abstract

Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology. Monoallelic deletions of 20p12 are variably associated with cleft palate, short stature, and developmental delay. Here, we report a cranioskeletal phenotype due to monoallelic truncating and frameshift BMP2 variants and deletions in 12 individuals from eight unrelated families that share features of short stature, a recognizable craniofacial gestalt, skeletal anomalies,