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Article

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.

BMC medical genomics - 8 Jul 2022

Chen Jing, Xiang Qinqin, Xiao Xiao, Xu Bocheng, Xie Hanbing, Wang He, Yang Mei, Liu Shanling

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes. Congenital contractural arachnodactyly syndrome (CCA) is an autosomal dominant hereditary disease of connective tissue. To date, the FBN2 gene is the only gene reported to cause CCA. Researchers found that COL1A2 and FBN2 are both involved in the...

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Identifiers

PMID: 35804365
DOI: 10.1186/s12920-022-01296-8
PMCID: PMC9270787

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