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GENATLAS PHENOTYPE

last update : 02-01-2019

Symbol	OIVII
Location	3p22.3
Name	osteogenesis imperfecta, variant, moderate-to-severe form, type VII
Corresponding gene	CRTAP
Other symbol(s)	OI type VII, OIV
Main clinical features	thin-ribbed OI variant with deformed limbs, with increased diameter of collagen fibrils in skin, consistent with altered fibrillogenesis multiple fractures at birth and in infancy , but fracture frequency appeared to decrease after puberty; sclerae minimally bluish; progressive deformities led to short stature and severe ambulatory restriction
Genetic determination	autosomal recessive
Related entries	including osteogenesis imperfecta type II (lethal neonatal cases)
Function/system disorder	osteo-articular
Type	disease

Remark(s)

bone mineralization density distribution data show that CRTAP deficiency results in a shift towards higher mineral content of the bone matrix similar to classical OI with collagen gene mutations (Fratzl-Zelman 2009) defects of extracellular matrix, as well as intracellular defects in collagen modification, contribute to the pathology of type VII OI (PMID: 21955071))