A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta
Fan, N; Jonas, JB; He, F; Yan, NH; Wang, Y; Liu, L; Liu, DL; Zhao, L; Pang, IH; Liu, XY
HERO ID
3539504
Reference Type
Journal Article
Year
2015
Language
English
PMID
| HERO ID | 3539504 |
|---|---|
| In Press | No |
| Year | 2015 |
| Title | A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta |
| Authors | Fan, N; Jonas, JB; He, F; Yan, NH; Wang, Y; Liu, L; Liu, DL; Zhao, L; Pang, IH; Liu, XY |
| Journal | Genetics and Molecular Research |
| Volume | 14 |
| Issue | 4 |
| Page Numbers | 15295-15300 |
| 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. |
| Doi | 10.4238/2015.November.30.5 |
| Pmid | 26634493 |
| Is Certified Translation | No |
| Dupe Override | No |
| Is Public | Yes |
| Language Text | English |