A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

[dentinogenesis imperfecta]

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 , COL 1 A 1 /A 2 . Here we identified a novel splicing mutation c .3207 +1 G >A (GenBank ID : JQ 236861 ) in the COL 1 A 1 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 .

Diseases
Validation

Diseases presenting "accompanied by short stature" symptom

dentinogenesis imperfecta

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