Hong-Yan Liu, Jia Huang, Dong Wu, Tao Li, Liang-Jie Guo, Qian-Nan Guo, Hong-Dan Wang, Rui-Li Wang, Yue Wang

Introduction

Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures. Based on clinical, genetic, and radiological features, Sillence et al.classified the OI into four subtypes including type I: Mild, common, with blue sclera; type II: Perinatal lethal form; type III: Severe and age-related progressive deformity, with normal sclera; and type IV: Moderate severity with normal sclera. Based on mutated genes and inheritance patterns, the four subtypes are further classified into 15 types of OI in Online Mendelian Inheritance in Man. More than 90% of the patients with OI have mutations in collagen type I alpha (COL1A) 1 and COL1A2.

To date, little is known about the molecular genetic basis of OI in Chinese population. Here, we report a typical OI family in China, consisting of five generations and a total of 31 individuals. Among 16 OI patients, two were fetuses. Pedigree analysis showed the autosomal dominant transmission. By examining the coding sequences of COL1A1 and COL1A2, we found that the gene mutation was associated with the clinical characterization of this family.