| 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 mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
| abnormal protein/gain of function
|
| |
| Remark(s)
|
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)) |