A new mutation in the COL1A1 gene linked to osteogenesis imperfecta in a Chinese family
Author Information
Author(s): Liu Wei, Gu Feng, Ji Jian, Lu Duanyang, Li Xiaorong, Ma Xu
Primary Institution: Tianjin Medical University Eye Center
Hypothesis
To identify the genetic defect of osteogenesis imperfecta (OI) type I in a large Chinese family of five generations.
Conclusion
The study identified a novel COL1A1 nonsense mutation (Q644X) associated with osteogenesis imperfecta type I.
Supporting Evidence
- All affected individuals in the family had fractured a bone more than once.
- The mutation was not observed in unaffected or 100 normal unrelated individuals.
- Significant evidence of linkage was obtained at markers D17S1180 and D17S1319.
Takeaway
This study found a new genetic change that causes a bone disease called osteogenesis imperfecta in a family from China.
Methodology
Seventeen family members were genotyped with microsatellite markers, and a mutation was detected by direct sequencing.
Participant Demographics
The family comprised 22 affected individuals from a five generation pedigree, originating from Hebei province, China.
Statistical Information
Statistical Significance
p<0.05
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