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GENATLAS PHENOTYPE

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

Mechanism(s)

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))