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GENATLAS PHENOTYPE

last update : 10-10-2016

Symbol	SYNS4
Location	8q22.1
Name	deafness-symphalangism syndrome 4
Corresponding gene	GDF6
Main clinical features	bilateral wrist and ankle deformities at birth and progressive conductive deafness after age 40 years progressive symphalangism, and carpal, tarsal, and vertebral fusion with tarsal-carpal coalition, humeroradial synostosis, brachydactyly, and proximal symphalangism
Genetic determination	autosomal dominant
Function/system disorder	ear
	osteo-articular
Type	disease

Remark(s)

Y444N variant affects a highly conserved AA of GDF6 in a region critical for binding of GDF6 to its receptor(s) and to the BMP antagonist NOG, and this mutant GDF6 is a more potent stimulator of the canonical BMP signaling pathway compared with wild-type GDF6 (PMID: 26643732))