Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain

L Nuytinck; K Wettinck; M Freund; L Van Maldergem; G Fabry; A De Paepe

Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain

Eur J Hum Genet. 1997 May-Jun;5(3):161-7.

Authors

L Nuytinck¹, K Wettinck, M Freund, L Van Maldergem, G Fabry, A De Paepe

Affiliation

¹ Centre for Medical Genetics, University Hospital Ghent, Belgium. Lieve.Nuytinck@rug.ac.be

PMID: 9272740

Abstract

Clinical and biochemical findings in 5 unrelated patients with osteogenesis imperfecta (OI) with a serine for glycine substitution in the alpha2(I) collagen chain are presented. The data are compared to other serine substitutions in collagen type I. Findings show that the phenotypic severity of serine for glycine substitutions in the alpha2(I) collagen chain is region dependent similar to the observations for the alpha1(I) collagen chain, and that so-called 'lethal' and 'non-lethal' domains in the alpha1 and alpha2 collagen chains do not necessarily correspond.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Collagen / genetics*
Collagen / metabolism
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Female
Fetal Diseases / diagnostic imaging
Fibroblasts / cytology
Fibroblasts / metabolism
Glycine* / genetics
Humans
Infant, Newborn
Male
Osteogenesis Imperfecta / diagnostic imaging
Osteogenesis Imperfecta / genetics*
Osteogenesis Imperfecta / pathology
Peptide Mapping
Phenotype
Point Mutation*
Polymorphism, Single-Stranded Conformational
Pregnancy
Prenatal Diagnosis
RNA / analysis
Radiography
Serine* / genetics

Substances

Serine
RNA
Collagen
Glycine