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

Research output: Contribution to journalArticle

2 Citations (Scopus)

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

Fingerprint

Osteogenesis Imperfecta
Sclera
Genes
Exome
Joint Instability
Bone and Bones
Deafness
Codon
Molecular Biology
Exons
Mutation
Proteins

Keywords

  • COL1A1 gene
  • Collagen
  • Frameshift deletion
  • Osteogenesis imperfecta

Cite this

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. / A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta. In: Genetics and Molecular Research. 2015 ; Vol. 14, No. 4. pp. 15295-15300.
@article{2b2961b2cce5401396344282852dddc9,
title = "A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta",
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.",
keywords = "COL1A1 gene, Collagen, Frameshift deletion, Osteogenesis imperfecta",
author = "N. Fan and Jonas, {J. B.} and F. He and Yan, {N. H.} and Y. Wang and L. Liu and Liu, {D. L.} and L. Zhao and Pang, {I. H.} and Liu, {X. Y.}",
year = "2015",
month = "11",
day = "30",
doi = "10.4238/2015.November.30.5",
language = "English",
volume = "14",
pages = "15295--15300",
journal = "Genetics and Molecular Research",
issn = "1676-5680",
publisher = "Fundacao de Pesquisas Cientificas de Ribeirao Preto",
number = "4",

}

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

In: Genetics and Molecular Research, Vol. 14, No. 4, 30.11.2015, p. 15295-15300.

Research output: Contribution to journalArticle

TY - JOUR

T1 - A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta

AU - Fan, N.

AU - Jonas, J. B.

AU - He, F.

AU - Yan, N. H.

AU - Wang, Y.

AU - Liu, L.

AU - Liu, D. L.

AU - Zhao, L.

AU - Pang, I. H.

AU - Liu, X. Y.

PY - 2015/11/30

Y1 - 2015/11/30

N2 - 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.

AB - 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.

KW - COL1A1 gene

KW - Collagen

KW - Frameshift deletion

KW - Osteogenesis imperfecta

UR - http://www.scopus.com/inward/record.url?scp=84978243717&partnerID=8YFLogxK

U2 - 10.4238/2015.November.30.5

DO - 10.4238/2015.November.30.5

M3 - Article

C2 - 26634493

AN - SCOPUS:84978243717

VL - 14

SP - 15295

EP - 15300

JO - Genetics and Molecular Research

JF - Genetics and Molecular Research

SN - 1676-5680

IS - 4

ER -