Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 02/01/07
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 mutationChromosome rearrangementEffectComments
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