A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta

N. Fan, J. B. Jonas, F. He, N. H. Yan, Y. Wang, L. Liu, D. L. Liu, L. Zhao, I. H. Pang, X. Y. Liu

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Abstract

Osteogenesis imperfecta (OI) is a genetically heterogeneous group of disorders, characterized by abnormal bone fragility, blue sclera, deafness, joint laxity, and soft-tissue dysplasia. The purpose of this study was to elucidate the genetic or molecular basis for OI type IA in a Chinese family. We evaluated the members of a family, in which six individuals are affected with increased bone fragility and blue sclera. Results of exome sequencing revealed a novel 1-bp deletion (c.2329delG, p.A777fs) in exon 33 of the COL1A1 gene in two affected individuals, but not in a control family member without OI. The variation co-segregated with the disease in all the OI patients but not in the unaffected family members. The mutation caused a frameshift alteration after codon 777, leading to premature termination of the COL1A1 protein. Thus, our findings identified a novel frameshift deletion c.2329delG (p.A777fs) in the COL1A1 gene, which is associated with OI type IA in a Chinese family.

Original languageEnglish
Pages (from-to)15295-15300
Number of pages6
JournalGenetics and Molecular Research
Volume14
Issue number4
DOIs
StatePublished - 30 Nov 2015

Keywords

  • COL1A1 gene
  • Collagen
  • Frameshift deletion
  • Osteogenesis imperfecta

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    Fan, N., Jonas, J. B., He, F., Yan, N. H., Wang, Y., Liu, L., Liu, D. L., Zhao, L., Pang, I. H., & Liu, X. Y. (2015). A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta. Genetics and Molecular Research, 14(4), 15295-15300. https://doi.org/10.4238/2015.November.30.5