Open AccessGenotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system
Author(s) -
LuJiao Li,
Fang Lyu,
Yuwen Song,
Ou Wang,
Yan Jiang,
Weibo Xia,
Xiaoping Xing,
Mei Li
Publication year - 2019
Publication title -
chinese medical journal/chinese medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 63
eISSN - 2542-5641
pISSN - 0366-6999
DOI - 10.1097/cm9.0000000000000013
Subject(s) - osteogenesis imperfecta , missense mutation , sanger sequencing , medicine , frameshift mutation , genotype , genetics , mutation , cohort , gastroenterology , biology , pathology , gene
Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen. This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large cohort of Chinese patients with OI.