First of all, we hope that your family is finding the support and help it needs. There is evidence that Grebe chondrodysplasia results from mutations in the CDMP1 gene (also known as the GDF5 gene). The Center for Human Genetics in Ingelheim, Germany appears to be the only reported lab that performs genetic testing for Grebe chondrodysplasia.
As you already know, Grebe chondrodysplasia is inherited in an autosomal recessive manner. This means that it is necessary to have two mutated copies of the gene, one from each parent to be affected with the condition. Parents of affected children are called carriers and each have one mutated copy of the gene and one normal copy of the gene. As your genetic counselor explained, two carriers have a 25% chance with each pregnancy to have an affected child.
We recommend that you contact the laboratory to find out the status of your children's testing. There is no cure for Grebe chondrodysplasia. However, if the specific mutations are identified in your children, this information can be used for prenatal testing purposes or potentially for PGD. This information may be helpful to other family members as well.
- Prenatal testing is used to identify or rule out a suspected genetic condition in a fetus before birth.
- Preimplantation genetic diagnosis (PGD) also called preimplantation testing is used to detect genetic changes in embryos that were created using assisted reproductive techniques such as in-vitro fertilization. In-vitro fertilization involves removing egg cells from a woman's ovaries and fertilizing them with sperm cells outside the body. To perform preimplantation testing, a small number of cells are taken from these embryos and tested for certain genetic changes.
We recommend that you meet again with a genetic counselor to discuss your options. We hope this information helps and wish your family the best.
Thank you very much, it was really helpful, i will discuss it with my genetic counselor