Compound heterozygosity for two variants in <i>BMP5</i> in human skeletal dysostosis with atrioventricular septal defect

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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Publication Details

Journal
Clinical Genetics
Published
2024-09-06
DOI
https://doi.org/10.1111/cge.14616
Citations
1
Primary Topic
Congenital heart defects research
Type
article
Field-Weighted Citation Impact
0.23

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article

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect

Nis Brix, Pernille Axél Gregersen, Lise Graversen, Gen Nishimura et al.
1 citations
Clinical Genetics
Congenital heart defects research
0.23
article

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect

Nis Brix, Pernille Axél Gregersen, Lise Graversen, Gen Nishimura, Giedré Grigelioniené, Sune Rubak, Thorkild Terkelsen, Anna Hammarsjö, Michel Bach Hellfritzsch, Hillevi Lindelöf, Jesper Vandborg Bjerre, Uffe Birk Jensen, Stense Farholt, Serena Gaetana Piticchio
article en
1 citations

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.

Clinical GeneticsVol. 107(1)
Karolinska University Hospital (SE), Aarhus University (DK), Aarhus University Hospital (DK), Rigshospitalet (DK), Karolinska Institutet (SE), Yokufukai Hospital (JP)
Stiftelsen Promobilia, Karolinska Institutet, Vetenskapsrådet
Good health and well-being
Openalex Percentile: Top 43%
Congenital heart defects research
0.23
DOIOpen Access PDFOpenAlex
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