Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

ABSTRACT:

Background

Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass.

Methods

The presence of COL1A1 or COL1A2 mutation was investigated by direct sequencing in 72 patients with OI type I, III, or IV (27 males and 45 females; age range 0.2-62 years) from 37 unrelated families. The clinical features of these patients were also recorded.

Results

Thirty-seven COL1A1 and COL1A2 mutations were identified, including 28 COL1A1 mutations and 9 COL1A2 mutations. Fifteen (41%) were novel mutations, and twelve (32%) were familial mutations. A review of their medical records revealed that the 72 patients could be classified into OI type I (n = 42), III (n = 5), and IV (n = 25). Twenty-nine patients had helical mutations (cau

SUBMITTER: Lin HY 

PROVIDER: S-EPMC4666204 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature