Compound Heterozygosity for Two Variants in BMP5 in Human Skeletal Dysostosis with Atrioventricular Septal Defect

Overview

Journal Clin Genet

Specialty Genetics

Date 2024 Sep 6

PMID 39239663

Authors

Pernille Axel Gregersen

Anna Hammarsjo

Lise Graversen

Nis Brix

Hillevi Lindelof

Uffe Birk Jensen

Stense Farholt

Sune Rubak

Jesper Bjerre

Serena G Piticchio

Thorkild Terkelsen

Gen Nishimura

Michel Bach Hellfritzsch

Giedre Grigelioniene

Affiliations

Soon will be listed here.

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.

Citing Articles

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

Gregersen P, Hammarsjo A, Graversen L, Brix N, Lindelof H, Jensen U Clin Genet. 2024; 107(1):78-82.

PMID: 39239663 PMC: 11608849. DOI: 10.1111/cge.14616.

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