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Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1.
J Bone Miner Res. 2013 Sep; 28(9):2001-7.JB

Abstract

COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. The skeletal clinical characteristics resulting from such mutations have not been characterized in detail. In this study we assessed 86 patients (36 male, 50 female; mean age 13.3 years; range, 0.6 to 54 years) with COL1A1 haploinsufficiency mutations, of whom 70 were aged 21 years or less ("pediatric" patients). Birth history was positive for fracture or long-bone deformity in 12% of patients. The average rate of long-bone fracture (femur, tibia/fibula, humerus, radius/ulna) in pediatric patients was 0.62 fractures per year, one-half of which affected the tibia/fibula. Long-bone fracture rate was negatively associated with age and lumbar spine areal bone mineral density. Vertebral compression fractures were observed in 71% of the 58 pediatric patients who had lateral spine radiographs. The median number of vertebral fractures was higher for females (median 4; range, 0 to 14) than for males (median 1; range, 0 to 8) (p = 0.03). Lumbar spine areal bone mineral density was negatively associated with the severity of vertebral compression fractures, as reflected in the spine deformity index. Scoliosis was present in about 30% of pediatric patients but the Cobb angle was <30 degrees in all cases. The average final height Z-score was -1.1, representing a deficit of 8 to 10 cm compared to the general population. In summary, OI patients with COL1A1 haploinsufficiency mutations have high rates of significant skeletal involvement. Systematic follow-up of growing patients with COL1A1 haploinsufficiency mutations including radiographic screening for vertebral compression fractures and scoliosis is warranted.

Authors+Show Affiliations

Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada. mbenamor@shriners.mcgill.caNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23529829

Citation

Ben Amor, I Mouna, et al. "Skeletal Clinical Characteristics of Osteogenesis Imperfecta Caused By Haploinsufficiency Mutations in COL1A1." Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, vol. 28, no. 9, 2013, pp. 2001-7.
Ben Amor IM, Roughley P, Glorieux FH, et al. Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. J Bone Miner Res. 2013;28(9):2001-7.
Ben Amor, I. M., Roughley, P., Glorieux, F. H., & Rauch, F. (2013). Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 28(9), 2001-7. https://doi.org/10.1002/jbmr.1942
Ben Amor IM, et al. Skeletal Clinical Characteristics of Osteogenesis Imperfecta Caused By Haploinsufficiency Mutations in COL1A1. J Bone Miner Res. 2013;28(9):2001-7. PubMed PMID: 23529829.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. AU - Ben Amor,I Mouna, AU - Roughley,Peter, AU - Glorieux,Francis H, AU - Rauch,Frank, PY - 2012/06/14/received PY - 2013/03/06/revised PY - 2013/03/20/accepted PY - 2013/3/27/entrez PY - 2013/3/27/pubmed PY - 2014/3/7/medline KW - COLLAGEN TYPE I KW - COMPRESSION FRACTURES KW - HAPLOINSUFFICIENCY KW - SCOLIOSIS KW - SPINE DEFORMITY INDEX SP - 2001 EP - 7 JF - Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research JO - J Bone Miner Res VL - 28 IS - 9 N2 - COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. The skeletal clinical characteristics resulting from such mutations have not been characterized in detail. In this study we assessed 86 patients (36 male, 50 female; mean age 13.3 years; range, 0.6 to 54 years) with COL1A1 haploinsufficiency mutations, of whom 70 were aged 21 years or less ("pediatric" patients). Birth history was positive for fracture or long-bone deformity in 12% of patients. The average rate of long-bone fracture (femur, tibia/fibula, humerus, radius/ulna) in pediatric patients was 0.62 fractures per year, one-half of which affected the tibia/fibula. Long-bone fracture rate was negatively associated with age and lumbar spine areal bone mineral density. Vertebral compression fractures were observed in 71% of the 58 pediatric patients who had lateral spine radiographs. The median number of vertebral fractures was higher for females (median 4; range, 0 to 14) than for males (median 1; range, 0 to 8) (p = 0.03). Lumbar spine areal bone mineral density was negatively associated with the severity of vertebral compression fractures, as reflected in the spine deformity index. Scoliosis was present in about 30% of pediatric patients but the Cobb angle was <30 degrees in all cases. The average final height Z-score was -1.1, representing a deficit of 8 to 10 cm compared to the general population. In summary, OI patients with COL1A1 haploinsufficiency mutations have high rates of significant skeletal involvement. Systematic follow-up of growing patients with COL1A1 haploinsufficiency mutations including radiographic screening for vertebral compression fractures and scoliosis is warranted. SN - 1523-4681 UR - https://www.unboundmedicine.com/medline/citation/23529829/Skeletal_clinical_characteristics_of_osteogenesis_imperfecta_caused_by_haploinsufficiency_mutations_in_COL1A1_ L2 - https://doi.org/10.1002/jbmr.1942 DB - PRIME DP - Unbound Medicine ER -