RESUMEN

The mouse mutation fragilitas ossium (fro) leads to a syndrome of severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Positional cloning of the locus identified a deletion in the gene encoding neutral sphingomyelin phosphodiesterase 3 (Smpd3) that led to complete loss of enzymatic activity. Our knowledge of SMPD3 function is consistent with the pathology observed in mutant mice and provides new insight into human pathologies.

Asunto(s)

Dentinogénesis Imperfecta/genética , Eliminación de Gen , Osteogénesis Imperfecta/genética , Animales , Dentinogénesis Imperfecta/enzimología , Ratones , Ratones Mutantes , Mutación , Osteogénesis Imperfecta/enzimología , Esfingomielina Fosfodiesterasa