Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients

Abstract

Mutations were identified in nine COL1A1/COL1A2 associated with OI type I-IV genes by scanning with DHPLC. Software was used to detect point mutation and large deletions/insertions in COL1A1 and COL1A2 genes.

Studies of type I collagen (COL1A1) α1 chain in patients with osteogenesis imperfecta

“…Frameshift mutation c.2555delG (p,Gly815Alafs293), which was described previously only in patients from Japan [2], was revealed in a proband of the Tatar eth nicity (Fig. 2).…”

“…In OI patients from Lithuania 11 types of mutations were detected, in Americans, 10, in Japanese, 9 in Chinese, 8 [1,2,5,26]. Moreover, each author finds previously unknown mutations in addition to those already described.…”

“…The main clinical traits of the disease include high bone fragility, blue sclera, low stature, impaired hearing, skeletal deformities, and dentin abnormalities [1][2][3]. Eleven clinical forms of OI have autosomal dominant and autosomal recessive type of inheritance [3,4] while disease severity varies from mild to prenatally lethal (Table 1).…”

Association between col1a2 Polymorphism and the Occurrence of Pelvic Organ Prolapse in Brazilian Women

“…8 It contains 52 exons and non-coding portions (38 kb in size). 9 It encodes the procollagen alpha 2 chain, a component of the collagen type I molecule. 10,11 Each α-chain contains terminal propeptides in the Cterminus (carboxy) and in the N-terminus (amino), and a core domain composed of 338 Gly-X-Y repeats, where X and Y exclude cysteine and tryptophan, and are often proline and hydroxyproline, respectively.…”

Low concentrations of zoledronic acid are better at regulating bone formation and repair

“…Osteogenesis imperfecta (OI) is a heterogeneous group of genetic disorders characterized by low bone mass, increased bone fragility, and susceptibility to bone fractures with variable severity. Its main clinical symptoms include increased bone fragility, osteoporosis, susceptibility to fractures, and bone anisotropy, and OI is accompanied by blue sclerae, dentinogenesis imperfecta, hearing loss, excessive joint laxity, and muscle weakness (7)(8)(9)(10). At present, ZA is the most promising therapy to treat OI, and this is especially true for its intravenous administration.…”