| Symbol
| BDC3
|
| Location
| 4q23-q24
|
| Name
|
brachydactyly type C3 |
| Corresponding gene
|
BMPR1B
|
| Other symbol(s)
| BDC/SYM1
|
| Main clinical features
|
brachydactyly type C with symphalangism, bilateral shortening and deviation of the index with only one flexion crease |
| Genetic determination
| not applicable |
| Function/system disorder
| osteo-articular |
| Type
| malformation
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
| abnormal protein/loss of function
| R486Q, located in a highly conserved region of the receptor with a strong inhibitory effect on chondrogenesis and a loss of intracellular SMAD activation and induction of alkaline phosphatase
| |
| Genotype/Phenotype correlations
|
mutation R486Q associated either to BDA2, either to BDC3 |