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GENATLAS PHENOTYPE

last update : 06-03-2017

Symbol	BRKS1
Location	17q21.2
Name	Bruck syndrome 1
Other name(s)	Kuskokwim disease
Corresponding gene	FKBP10
Main clinical features	syndromic form of osteogenesis imperfecta (OI) that is characterized by the additional presence of pterygium formation congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis osteoporosis, fragile bones with congenital contractures of the large joints and short stature associated
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)

mutations in FKBP10 affect protease sensitivity of the type I collagen triple helix (PMID: 22949511))