Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 10-10-2015
Symbol BCYM3
Location 12q24.11
Name brachyolmia type 3
Corresponding gene TRPV4
Other symbol(s) BCYOL3
Main clinical features
  • skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature with severe kyphoscoliosis and flattened, irregular cervical vertebrae
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function  
  • mutation resulting in dramatic gain of function characterized by increased constitutive activity and elevated channel activation by either mechano-stimulation or agonist stimulation by arachidonic acid
  • mutant R616Q channels maintain mechanosensitivity but have greater constitutive activity and no change in unitary conductance or rectification (PMID: 20605796))