Article
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2012
Chen C P, Lin S P, Suo Y N, Chern S R, Su J W, Wang W
Abstract excerpt
Osteogenesis imperfecta (OI) types I-V have been inherited in an autosomal dominant pattern. OI type I is associated with mutations in COL1A1 mostly due to a null allele. OI types II-IV are associated with mutations in COL1A1 or COL1A2 and mostly are due to glycine substitutions. It has been suggested that the effect of glycine substitutions is position specific, and the substitution of glycine by serine has much...
Topics
- Child
- Collagen Type I
- Collagen Type I, alpha 1 Chain
- Exons
- Female
- Genotype
- Glycine
- Humans
- Mutation, Missense
- Osteogenesis Imperfecta