Pamidronate Response in a Novel Biallelic CREB3L1 Gene Mutation–Associated Osteogenesis Imperfecta
Agnes Selina,
Madhavi Kandagaddala,
Vrisha Madhuri
Abstract:Case:
We report a 15-year-old adolescent boy being followed up for 6 years with osteogenesis imperfecta (OI). Genetic testing of this child revealed a novel missense variant c.925C>T p.Arg309Cys in the CREB3L1 gene. Treatment with regular pamidronate therapy showed increased bone mineral density and a reduced fracture rate. His lower limb rush rodding improved his mobility. His withdrawal from bisphosphonate therapy worsened his mobility status but started improving after he restarted treatment,… Show more
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