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Mutations in COL1A1 of type I collagen genes in Chinese patients with osteogenesis imperfecta.
J Investig Med. 2009 Jun; 57(5):662-7.JI

Abstract

BACKGROUND

Osteogenesis imperfecta (OI) is an inherited bone disease caused by mutations in collagen genes. Because these mutations occur at a wide variety of sites in the genes and differ among populations, we studied the COL1A1 gene in Chinese with OI and compared the results with findings form other populations.

METHODS

COL1A1 gene mutations were detected by polymerase chain reaction and sequencing from 3 unrelated families and 1 sporadic case in Chinese.

RESULTS

Four COL1A1 mutations that were novel were found. The patients' clinical characteristics were variable, even within the same family. Notably, some of the novel COL1A1 variants were at the same nucleotide positions as previously described but with different nucleotide changes. In addition, we also found 1 patient with OI with 2 mutations in the same haplotypes.

CONCLUSIONS

We discuss the differences in phenotype related to the specific mutation sites. Although there have been many reports on mutations of COL1A1 and COL1A2, few cases have been reported in Chinese. Our data showed that the COL1A1 gene mutation might also play an important role in OI among Chinese. The Han Chinese represent a quarter of the world's population, and we believe that our new data contributes to fill in the type I collagen mutation map. We thought that the patient with OI could have 2 mutations in the same haplotypes, without limit to 1 mutation.

Authors+Show Affiliations

Department of Pathology, The First Affiliated Hospital, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, People's Republic of China.No 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

19491628

Citation

Wang, Zhuo, et al. "Mutations in COL1A1 of Type I Collagen Genes in Chinese Patients With Osteogenesis Imperfecta." Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, vol. 57, no. 5, 2009, pp. 662-7.
Wang Z, Yang Z, Ke Z, et al. Mutations in COL1A1 of type I collagen genes in Chinese patients with osteogenesis imperfecta. J Investig Med. 2009;57(5):662-7.
Wang, Z., Yang, Z., Ke, Z., Yang, S., Shi, H., & Wang, L. (2009). Mutations in COL1A1 of type I collagen genes in Chinese patients with osteogenesis imperfecta. Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 57(5), 662-7. https://doi.org/10.2310/JIM.0b013e3181a8d514
Wang Z, et al. Mutations in COL1A1 of Type I Collagen Genes in Chinese Patients With Osteogenesis Imperfecta. J Investig Med. 2009;57(5):662-7. PubMed PMID: 19491628.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations in COL1A1 of type I collagen genes in Chinese patients with osteogenesis imperfecta. AU - Wang,Zhuo, AU - Yang,Zheng, AU - Ke,Zunfu, AU - Yang,Shicong, AU - Shi,Huijuan, AU - Wang,Liantang, PY - 2009/6/4/entrez PY - 2009/6/6/pubmed PY - 2009/8/1/medline SP - 662 EP - 7 JF - Journal of investigative medicine : the official publication of the American Federation for Clinical Research JO - J Investig Med VL - 57 IS - 5 N2 - BACKGROUND: Osteogenesis imperfecta (OI) is an inherited bone disease caused by mutations in collagen genes. Because these mutations occur at a wide variety of sites in the genes and differ among populations, we studied the COL1A1 gene in Chinese with OI and compared the results with findings form other populations. METHODS: COL1A1 gene mutations were detected by polymerase chain reaction and sequencing from 3 unrelated families and 1 sporadic case in Chinese. RESULTS: Four COL1A1 mutations that were novel were found. The patients' clinical characteristics were variable, even within the same family. Notably, some of the novel COL1A1 variants were at the same nucleotide positions as previously described but with different nucleotide changes. In addition, we also found 1 patient with OI with 2 mutations in the same haplotypes. CONCLUSIONS: We discuss the differences in phenotype related to the specific mutation sites. Although there have been many reports on mutations of COL1A1 and COL1A2, few cases have been reported in Chinese. Our data showed that the COL1A1 gene mutation might also play an important role in OI among Chinese. The Han Chinese represent a quarter of the world's population, and we believe that our new data contributes to fill in the type I collagen mutation map. We thought that the patient with OI could have 2 mutations in the same haplotypes, without limit to 1 mutation. SN - 1081-5589 UR - https://www.unboundmedicine.com/medline/citation/19491628/Mutations_in_COL1A1_of_type_I_collagen_genes_in_Chinese_patients_with_osteogenesis_imperfecta_ L2 - https://jim.bmj.com/lookup/pmidlookup?view=long&pmid=19491628 DB - PRIME DP - Unbound Medicine ER -