Back to Search
Start Over
Osteogenesis imperfecta: clinical, biochemical and molecular findings
- Source :
- Clinical Genetics. 70:131-139
- Publication Year :
- 2006
- Publisher :
- Wiley, 2006.
-
Abstract
- Mutations in COL1A1 and COL1A2 genes, encoding the alpha1 and alpha2 chain of type I collagen, respectively, are responsible for the vast majority of cases of osteogenesis imperfecta (OI) (95% of patients with a definite clinical diagnosis). We have investigated 22 OI patients, representing a heterogeneous phenotypic range, at the biochemical and molecular level. A causal mutation in either type I collagen gene was identified in 20 of them: no recurrent mutation was found in unrelated subjects; 15 out of 20 mutations had not been reported previously. In two patients, we could not find any causative mutation in either type I collagen gene, after extensive genomic DNA sequencing. Failure of COL1A1/COL1A2 mutation screening may be due, in a few cases, to further clinical heterogeneity, i.e. additional non-collagenous disease loci are presumably involved in OI types beyond the traditional Sillence's classification.
- Subjects :
- Adult
Male
collagen I mutations
Adolescent
DNA Mutational Analysis
Biology
medicine.disease_cause
Collagen Type I
Pregnancy
Genotype
Genetics
medicine
Humans
biochemistry
Child
Gene
Genetics (clinical)
Mutation
Genetic heterogeneity
Infant
Osteogenesis Imperfecta
medicine.disease
Phenotype
Osteochondrodysplasia
Collagen Type I, alpha 1 Chain
Osteogenesis imperfecta
Child, Preschool
Female
Collagen
Type I collagen
Subjects
Details
- ISSN :
- 13990004 and 00099163
- Volume :
- 70
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....2130048e10f11a20ee84e9ee59e544f8