Molecular characteristics

The BMP2-related syndrome is caused by two types of mutations affecting the BMP2 gene. The first type involves deletion (or loss) of one copy of the BMP2 gene. The other type of mutation involves a change in the spelling of the BMP2 gene. Both types of mutations result in the loss of half of the usual amount of BMP2 in the body. We suspect that BMP2 is important in the development of a baby in the womb as well as in the growth of the child once born.