Back to Search
Start Over
A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family
- Source :
- Gene. 502:168-171
- Publication Year :
- 2012
- Publisher :
- Elsevier BV, 2012.
-
Abstract
- Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes.
- Subjects :
- Male
Dentinogenesis imperfecta
RNA Splicing
Biology
Short stature
Collagen Type I
Frameshift mutation
Young Adult
Asian People
Genetics
medicine
Humans
Blue sclerae
Gene
integumentary system
General Medicine
Osteogenesis Imperfecta
medicine.disease
Molecular biology
Pedigree
Collagen Type I, alpha 1 Chain
Osteogenesis imperfecta
Child, Preschool
Mutation
Mutation (genetic algorithm)
RNA splicing
Female
medicine.symptom
Subjects
Details
- ISSN :
- 03781119
- Volume :
- 502
- Database :
- OpenAIRE
- Journal :
- Gene
- Accession number :
- edsair.doi.dedup.....94e2ed497cdbff1c3254a798c6f84aeb