Substitution of arginine for glycine at position 154 of the α1 chain of type I collagen in a variant of osteogenesis imperfecta: Comparison to previous cases with the same mutation

✍ Scribed by Zhuang, Jiapiao; Tromp, Gerard; Kuivaniemi, Helena; Castells, Salvador; Prockop, Darwin J.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 33 KB
• Volume: 61
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960111)61:2<111::aid-ajmg1>3.0.co;2-#

✦ Synopsis

A substitution of arginine for glycine at amino acid position 154 of the al(1) collagen chain was found in a father and his three children. The phenotype of the patients includes manifestations of types I and IIUIV osteogenesis imperfecta, but appears to be milder than that of the previously described two unrelated patients that had the identical mutation in the al(1) collagen chain. The variability in the phenotype raises the possibility of epistatic loci or environmental effects on expression of the disorder.