Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.

[dentinogenesis imperfecta]

Osteogenesis imperfecta (OI ) comprises a heterogeneous group of disorders characterized by bone fragility , frequent fractures , and low bone mass . Dominantly inherited COL 1 A 1 or COL 1 A 2 mutations appear to be causative in the majority of OI types , but rare recessively inherited genes have also been reported . Recently , SERPINF 1 has been reported as another causative gene in OI type VI . To date , only eight SERPINF 1 mutations have been reported and all are homozygous . Our patient showed no abnormalities at birth , frequent fractures , osteopenia , and poor response on pamidronate therapy . At the time of her most recent evaluation , she was 8 yr old , and could not walk independently due to frequent lower-extremity fractures , resulting in severe deformity . No clinical signs were seen of hearing impairment , blue sclera , or dentinogenesis imperfecta . In this study , we describe the clinical and radiological findings of one Korean patient with novel compound heterozygous mutations (c .77 dupC and c .421 dupC ) of SERPINF 1 .

Diseases
Validation

Diseases presenting "resulting in severe deformity" symptom

dentinogenesis imperfecta

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