Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
Frank RauchFrancis H Glorieux

Abstract

Osteogenesis imperfecta (OI) is a heritable bone fragility disorder that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains, alpha1(I) and alpha2(I). In this study, we examined the relationship between collagen type I mutations and bone densitometric and histomorphometric findings in pediatric OI patients who had not received bisphosphonate treatment. Lumbar spine areal bone mineral density (LS aBMD) was measured in 192 patients (99 girls, 93 boys; age range 3 weeks to 16.9 years) who had either COL1A1 mutations leading to haploinsufficiency (n = 52) or mutations that lead to the substitution of glycine by another amino acid in the triple-helical domain of either the alpha1(I) (n = 58) or the alpha2(I) chain (n = 82). Compared with patients with helical mutations, patients with COL1A1 haploinsufficiency on average were taller and heavier and had higher LS aBMD. After adjustment for age, sex, and height Z-scores, the mean LS aBMD Z-scores were -4.0 for the haploinsufficiency group and -4.7 for both helical mutation groups. In the whole patient population, the average LS aBMD Z-score was higher by 0.6 (95% confidence interval 0.2-1.0) in girls than in bo...Continue Reading

Citations

Sep 14, 2011·Journal of Osteoporosis·I Mouna Ben AmorFrank Rauch
Dec 8, 2010·Critical Reviews in Eukaryotic Gene Expression·Marlon O CoulibalyClifford B Jones
Jun 15, 2011·Nature Reviews. Endocrinology·Antonella ForlinoJoan C Marini
Oct 22, 2013·Acta otorrinolaringológica española·Ana Pereira da SilvaCecília Almeida E Sousa
Jul 28, 2020·Frontiers in Endocrinology·Sanne TreurnietNathalie Bravenboer
Aug 1, 2019·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·Y OhataK Ozono
Jun 3, 2021·International Journal of Molecular Sciences·Pierre MoffattFrank Rauch
Jun 3, 2021·Medicina·Mari DeguchiTakashi Murakami

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