Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

ABSTRACT:

Background

SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, rare heterozygous loss-of-function variants in SMAD6 were demonstrated to increase the risk of disparate clinical disorders including cardiovascular disease, craniosynostosis and radioulnar synostosis. Only two unrelated patients harbouring biallelic SMAD6 variants presenting a complex cardiovascular phenotype and facial dysmorphism have been described.

Cases

Here, we present the first two patients with craniosynostosis harbouring homozygous SMAD6 variants. The male probands, both born to healthy consanguineous parents, were diagnosed with metopic synostosis and bilateral or unilateral radioulnar synostosis. Additionally, one

SUBMITTER: Luyckx I 

PROVIDER: S-EPMC10982635 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature