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Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
Am J Med Genet A. 2014 Jun; 164A(6):1482-9.AJ

Abstract

Osteogenesis imperfecta (OI) is a condition of decreased bone density with heterogeneous etiologies. Most of the cases are inherited in an autosomal dominant fashion and are caused by mutations in the COL1A1 or COL1A2 genes. Since these two genes are very large, there are no data about mutations in Indian patients with OI. We selected 35 Indian patients who were clinically diagnosed with OI and all exons of both the genes were sequenced. Mutations in COL1A1 (14 cases, 6 novel) and COL1A2 (11 cases, 7 novel) were identified in 25 patients. A total of 55 polymorphisms were identified in both the genes with eight novel variants in the coding region, and nine novel variants in the non-coding regions. No mutation was detected in 10 patients. Six of them were from consanguineous families, with one or two similarly affected siblings suggesting possible autosomal recessive inheritance. If we exclude families with consanguinity, mutations were identified in 25 out of 29 families giving 86% mutation detection rate. Mutations in COL1A1 accounted for 56% of the cases and COL1A2 44%, which is similar to the reported rate worldwide.

Authors+Show Affiliations

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

24668929

Citation

Stephen, Joshi, et al. "Mutation Spectrum of COL1A1 and COL1A2 Genes in Indian Patients With Osteogenesis Imperfecta." American Journal of Medical Genetics. Part A, vol. 164A, no. 6, 2014, pp. 1482-9.
Stephen J, Shukla A, Dalal A, et al. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. Am J Med Genet A. 2014;164A(6):1482-9.
Stephen, J., Shukla, A., Dalal, A., Girisha, K. M., Shah, H., Gupta, N., Kabra, M., Dabadghao, P., Hasegawa, K., Tanaka, H., & Phadke, S. R. (2014). Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. American Journal of Medical Genetics. Part A, 164A(6), 1482-9. https://doi.org/10.1002/ajmg.a.36481
Stephen J, et al. Mutation Spectrum of COL1A1 and COL1A2 Genes in Indian Patients With Osteogenesis Imperfecta. Am J Med Genet A. 2014;164A(6):1482-9. PubMed PMID: 24668929.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. AU - Stephen,Joshi, AU - Shukla,Anju, AU - Dalal,Ashwin, AU - Girisha,Katta Mohan, AU - Shah,Hitesh, AU - Gupta,Neerja, AU - Kabra,Madhulika, AU - Dabadghao,Preeti, AU - Hasegawa,Kosei, AU - Tanaka,Hiroyuki, AU - Phadke,Shubha R, Y1 - 2014/03/25/ PY - 2013/06/14/received PY - 2013/12/31/accepted PY - 2014/3/27/entrez PY - 2014/3/29/pubmed PY - 2015/1/15/medline KW - COL1A1 KW - COL1A2 KW - India KW - mutation KW - osteogenesis imperfecta SP - 1482 EP - 9 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 164A IS - 6 N2 - Osteogenesis imperfecta (OI) is a condition of decreased bone density with heterogeneous etiologies. Most of the cases are inherited in an autosomal dominant fashion and are caused by mutations in the COL1A1 or COL1A2 genes. Since these two genes are very large, there are no data about mutations in Indian patients with OI. We selected 35 Indian patients who were clinically diagnosed with OI and all exons of both the genes were sequenced. Mutations in COL1A1 (14 cases, 6 novel) and COL1A2 (11 cases, 7 novel) were identified in 25 patients. A total of 55 polymorphisms were identified in both the genes with eight novel variants in the coding region, and nine novel variants in the non-coding regions. No mutation was detected in 10 patients. Six of them were from consanguineous families, with one or two similarly affected siblings suggesting possible autosomal recessive inheritance. If we exclude families with consanguinity, mutations were identified in 25 out of 29 families giving 86% mutation detection rate. Mutations in COL1A1 accounted for 56% of the cases and COL1A2 44%, which is similar to the reported rate worldwide. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/24668929/Mutation_spectrum_of_COL1A1_and_COL1A2_genes_in_Indian_patients_with_osteogenesis_imperfecta_ L2 - https://doi.org/10.1002/ajmg.a.36481 DB - PRIME DP - Unbound Medicine ER -