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A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.
Mol Vis. 2007 Mar 09; 13:360-5.MV

Abstract

PURPOSE

To identify the genetic defect of osteogenesis imperfecta (OI) type I in a large Chinese family of five generations.

METHODS

Seventeen members in an OI type I family were recruited, and clinical examinations were performed. All members were genotyped with microsatellite markers at loci associated with OI. A two-point LOD score was calculated using the Linkage package. A mutation was detected by direct sequencing.

RESULTS

All affected individuals in the family had fractured a bone more than once, and their sclerae were blue. Significant evidence of linkage was obtained at markers D17S1180 (LOD score [Z]=2.91, at recombination fraction [theta]=0.0) and D17S1319 (Z=2.20, at theta=0.0), respectively. Sequencing of the COL1A1 gene revealed a C>T transition in exon 36, which caused a substitution of Gln at codon 644 to a stop codon (Q644X). This mutation was not observed in unaffected or 100 normal unrelated individuals.

CONCLUSIONS

This study is the first report that OI is associated with the mutation Q644X of COL1A1.

Authors+Show Affiliations

Tianjin Medical University Eye Center, Tianjin, China. remmusliu@gamil.com <remmusliu@gamil.com>No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

17392686

Citation

Liu, Wei, et al. "A Novel COL1A1 Nonsense Mutation Causing Osteogenesis Imperfecta in a Chinese Family." Molecular Vision, vol. 13, 2007, pp. 360-5.
Liu W, Gu F, Ji J, et al. A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family. Mol Vis. 2007;13:360-5.
Liu, W., Gu, F., Ji, J., Lu, D., Li, X., & Ma, X. (2007). A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family. Molecular Vision, 13, 360-5.
Liu W, et al. A Novel COL1A1 Nonsense Mutation Causing Osteogenesis Imperfecta in a Chinese Family. Mol Vis. 2007 Mar 9;13:360-5. PubMed PMID: 17392686.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family. AU - Liu,Wei, AU - Gu,Feng, AU - Ji,Jian, AU - Lu,Duanyang, AU - Li,Xiaorong, AU - Ma,Xu, Y1 - 2007/03/09/ PY - 2007/3/30/pubmed PY - 2007/4/17/medline PY - 2007/3/30/entrez SP - 360 EP - 5 JF - Molecular vision JO - Mol Vis VL - 13 N2 - PURPOSE: To identify the genetic defect of osteogenesis imperfecta (OI) type I in a large Chinese family of five generations. METHODS: Seventeen members in an OI type I family were recruited, and clinical examinations were performed. All members were genotyped with microsatellite markers at loci associated with OI. A two-point LOD score was calculated using the Linkage package. A mutation was detected by direct sequencing. RESULTS: All affected individuals in the family had fractured a bone more than once, and their sclerae were blue. Significant evidence of linkage was obtained at markers D17S1180 (LOD score [Z]=2.91, at recombination fraction [theta]=0.0) and D17S1319 (Z=2.20, at theta=0.0), respectively. Sequencing of the COL1A1 gene revealed a C>T transition in exon 36, which caused a substitution of Gln at codon 644 to a stop codon (Q644X). This mutation was not observed in unaffected or 100 normal unrelated individuals. CONCLUSIONS: This study is the first report that OI is associated with the mutation Q644X of COL1A1. SN - 1090-0535 UR - https://www.unboundmedicine.com/medline/citation/17392686/A_novel_COL1A1_nonsense_mutation_causing_osteogenesis_imperfecta_in_a_Chinese_family_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/17392686/ DB - PRIME DP - Unbound Medicine ER -