Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant
Paediatrics
Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant
Paediatrics

Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant

Hum Genome Var. 2025 Sep 15;12(1):19. doi: 10.1038/s41439-025-00323-1.

ABSTRACT

Src Homology 3 Domain-containing Adaptor Protein 3 (SASH3) deficiency is an X-linked immune disorder. Here we identified a male case with a pathogenic SASH3 variant (c.1039C>T [p.Arg347Cys]) who presented with osteogenesis imperfecta, intellectual disability and recurrent infections. While immunological features in this case were characterized, further studies are needed to determine the association between the SASH3 variant and the skeletal or neurological manifestations.

PMID:40947476 | DOI:10.1038/s41439-025-00323-1