2021
Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype
Choksi I, Cox A, Robinson C, Bale A, Carpenter T. Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype. Osteoporosis International 2021, 32: 1239-1244. PMID: 33624138, DOI: 10.1007/s00198-021-05838-1.Peer-Reviewed Original ResearchConceptsVertebral compression fracturesNovel homozygous variantOsteogenesis imperfectaMultiple vertebral compression fracturesZ-scoreHomozygous variantBilateral tibial fracturesLumbar spine BMDTotal hip BMDEffectiveness of bisphosphonatesFemoral neck BMDHeight z-scoreHomozygous missense variantBroad phenotypic spectrumBisphosphonate therapyBP therapySpinal osteopeniaSymptomatic reliefClinical presentationRecurrent fracturesSpine BMDTibial fracturesCompression fracturesHip BMDNeck BMD
2020
SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta
Choksi I, Carpenter T, Robinson C. SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta. Journal Of The Endocrine Society 2020, 4: sun-lb19. PMCID: PMC7209160, DOI: 10.1210/jendso/bvaa046.2020.Peer-Reviewed Original ResearchVertebral compression fracturesOsteogenesis imperfectaNovel homozygous mutationRare formMultiple vertebral compression fracturesBilateral tibial fracturesNormal serum calciumHigh-resolution peripheral quantitative CTHomozygous mutationLumbar spine BMDTotal hip BMDVertebral height lossEffectiveness of bisphosphonatesFemoral neck BMDProtein 1Age 6 yearsAge 2.5 yearsPeripheral quantitative CTGross motor delayAutosomal recessive osteogenesis imperfectaBroad phenotypic spectrumBP therapySpinal osteopeniaSubtle facial dysmorphismSymptomatic relief