<p><b>OBJECTIVE</b>To study a
family affected with
osteogenesis imperfecta for potential
mutations in COL1A1
gene.</p><p><b>
METHODS</b>Clinical data of an affected
family was collected. Potential
mutation of the COL1A1
gene was screened using
polymerase chain reaction and direct sequencing. Suspected
mutation was detected in 20 unaffected
relatives and 200 unrelated healthy controls.</p><p><b>RESULTS</b>
Analysis of
RNA splicing has revealed a c.3208G/A
mutation, which created a new splice sites and led to a
frameshift mutation. The same
mutation was not detected in the unaffected
relatives or the 200 healthy controls.</p><p><b>CONCLUSION</b>
Mutations of the COL1A1
gene are one of the major causes of
osteogenesis imperfecta in
Chinese population. Our finding has enriched the
mutation spectrum of
type I collagen genes.</p>