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Article Abstract
The growth and development of the skeleton is regulated by bone morphogenetic proteins of which several are linked to genetic skeletal disorders. So far, no human skeletal malformations have been associated with variants in BMP5. Here, we report a patient with biallelic loss of function variants in BMP5 and a syndromic phenotype including skeletal dysostosis, dysmorphic features, hypermobility, laryngo-tracheo-bronchomalacia and atrioventricular septal defect. We discuss the phenotype in relation to the known tissue-specific expression of Bmp5 and similar morphological abnormalities previously reported in experimental animal models. Our findings suggest a new association between BMP5 variants and a range of developmental anomalies, involving ears, heart and skeleton, thereby increasing understanding of BMP5's role in human development.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11608849 | PMC |
| http://dx.doi.org/10.1111/cge.14616 | DOI Listing |
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Article Synopsis
- - The growth and development of bones are controlled by bone morphogenetic proteins (BMPs), which are linked to various skeletal disorders, but BMP5 has not previously been connected to human skeletal malformations.
- - A patient with two loss-of-function variants of BMP5 was identified, presenting a syndromic phenotype that includes skeletal dysostosis, physical abnormalities, and heart issues.
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