Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta
- PMID: 21912751
- PMCID: PMC3170785
- DOI: 10.4061/2011/540178
Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta
Abstract
Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity 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. Here we describe genotype-phenotype correlations in OI patients who have mutations affecting collagen type I. This paper is based on findings in a large single-centre OI population and a review of the literature.
Figures
Similar articles
-
Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.Osteoporos Int. 2019 Nov;30(11):2333-2342. doi: 10.1007/s00198-019-05076-6. Epub 2019 Jul 29. Osteoporos Int. 2019. PMID: 31363794 Free PMC article.
-
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.Clin Chim Acta. 2008 Dec;398(1-2):148-51. doi: 10.1016/j.cca.2008.07.030. Epub 2008 Aug 5. Clin Chim Acta. 2008. PMID: 18755172
-
Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta.Clin Chim Acta. 2018 Sep;484:141-147. doi: 10.1016/j.cca.2018.05.048. Epub 2018 May 25. Clin Chim Acta. 2018. PMID: 29807018
-
Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.Acta Biochim Pol. 2002;49(2):433-41. Acta Biochim Pol. 2002. PMID: 12362985 Review.
-
Mendelian bone fragility disorders.Bone. 2019 Sep;126:11-17. doi: 10.1016/j.bone.2019.04.021. Epub 2019 Apr 27. Bone. 2019. PMID: 31039433 Review.
Cited by
-
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.Front Endocrinol (Lausanne). 2023 Sep 22;14:1149982. doi: 10.3389/fendo.2023.1149982. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37810882 Free PMC article.
-
Zoledronic Acid Treatment in Infants and Toddlers with Osteogenesis Imperfecta is Safe and Effective: A Tertiary Care Centre Experience.Indian J Endocrinol Metab. 2023 May-Jun;27(3):255-259. doi: 10.4103/ijem.ijem_268_22. Epub 2023 Jun 26. Indian J Endocrinol Metab. 2023. PMID: 37583407 Free PMC article.
-
Transition of young adults with metabolic bone diseases to adult care.Front Endocrinol (Lausanne). 2023 Mar 17;14:1137976. doi: 10.3389/fendo.2023.1137976. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37008909 Free PMC article. Review.
-
From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.Biomolecules. 2023 Feb 2;13(2):281. doi: 10.3390/biom13020281. Biomolecules. 2023. PMID: 36830650 Free PMC article.
-
Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.BMC Med Genomics. 2022 Jul 8;15(1):154. doi: 10.1186/s12920-022-01296-8. BMC Med Genomics. 2022. PMID: 35804365 Free PMC article.
References
LinkOut - more resources
Full Text Sources
Miscellaneous
