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Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Freya Swinnen UGent, Paul Coucke UGent, Anne De Paepe UGent, Sofie Symoens UGent, Fransiska Malfait UGent, Filomena V Gentile, Luca Sangiorgi, Patrizia D'Eufemia, Mauro Celli and Ton JTM Garretsen, et al. (2011) ORPHANET JOURNAL OF RARE DISEASES. 6.
abstract
Background: Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing loss in approximately half of the cases. The hearing impairment usually starts between the second and fourth decade of life as a conductive hearing loss, frequently evolving to mixed hearing loss thereafter. A minority of patients develop pure sensorineural hearing loss. The interindividual variability in the audiological characteristics of the hearing loss is unexplained. Methods: With the purpose of evaluating inter- and intrafamilial variability, hearing was thorougly examined in 184 OI patients (type I: 154; type III: 4; type IV: 26), aged 3-89 years, with a mutation in either COL1A1 or COL1A2 and originating from 89 different families. Due to the adult onset of hearing loss in OI, correlations between the presence and/or characteristics of the hearing loss and the underlying mutation were investigated in a subsample of 114 OI patients from 64 different families who were older than 40 years of age or had developed hearing loss before the age of 40. Results: Hearing loss was diagnosed in 48.4% of the total sample of OI ears with increasing prevalence in the older age groups. The predominant type was a mixed hearing loss (27.5%). A minority presented a pure conductive (8.4%) or pure sensorineural (12.5%) loss. In the subsample of 114 OI subjects, no association was found between the nature of the mutation in COL1A1 or COL1A2 genes and the occurrence, type or severity of hearing loss. Relatives originating from the same family differed in audiological features, which may partially be attributed to their dissimilar age. Conclusions: Our study confirms that hearing loss in OI shows a strong intrafamilial variability. Additional modifications in other genes are assumed to be responsible for the expression of hearing loss in OI.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
genotype-phenotype correlation., hearing loss, COL1A1, COL1A2, Osteogenesis Imperfecta, HEARING-LOSS, I COLLAGEN, MUTATION, MEMBERS
journal title
ORPHANET JOURNAL OF RARE DISEASES
Orphanet J. Rare Dis.
volume
6
article_number
88
pages
8 pages
Web of Science type
Article
Web of Science id
000300370400001
JCR category
MEDICINE, RESEARCH & EXPERIMENTAL
JCR impact factor
5.074 (2011)
JCR rank
14/109 (2011)
JCR quartile
1 (2011)
ISSN
1750-1172
DOI
10.1186/1750-1172-6-88
language
English
UGent publication?
yes
classification
A1
copyright statement
I have retained and own the full copyright for this publication
id
1981515
handle
http://hdl.handle.net/1854/LU-1981515
date created
2012-01-10 11:31:51
date last changed
2012-09-21 16:38:09
@article{1981515,
  abstract     = {Background: Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing loss in approximately half of the cases. The hearing impairment usually starts between the second and fourth decade of life as a conductive hearing loss, frequently evolving to mixed hearing loss thereafter. A minority of patients develop pure sensorineural hearing loss. The interindividual variability in the audiological characteristics of the hearing loss is unexplained. 
Methods: With the purpose of evaluating inter- and intrafamilial variability, hearing was thorougly examined in 184 OI patients (type I: 154; type III: 4; type IV: 26), aged 3-89 years, with a mutation in either COL1A1 or COL1A2 and originating from 89 different families. Due to the adult onset of hearing loss in OI, correlations between the presence and/or characteristics of the hearing loss and the underlying mutation were investigated in a subsample of 114 OI patients from 64 different families who were older than 40 years of age or had developed hearing loss before the age of 40.  
Results: Hearing loss was diagnosed in 48.4\% of the total sample of OI ears with increasing prevalence in the older age groups. The predominant type was a mixed hearing loss (27.5\%). A minority presented a pure conductive (8.4\%) or pure sensorineural (12.5\%) loss. In the subsample of 114 OI subjects, no association was found between the nature of the mutation in COL1A1 or COL1A2 genes and the occurrence, type or severity of hearing loss. Relatives originating from the same family differed in audiological features, which may partially be attributed to their dissimilar age.  
Conclusions: Our study confirms that hearing loss in OI shows a strong intrafamilial variability. Additional modifications in other genes are assumed to be responsible for the expression of hearing loss in OI.},
  articleno    = {88},
  author       = {Swinnen, Freya and Coucke, Paul and De Paepe, Anne and Symoens, Sofie and Malfait, Fransiska and Gentile, Filomena V and Sangiorgi, Luca  and D'Eufemia, Patrizia and Celli, Mauro and Garretsen, Ton JTM and Cremers, Cor WRJ and Dhooge, Ingeborg and De Leenheer, Els},
  issn         = {1750-1172},
  journal      = {ORPHANET JOURNAL OF RARE DISEASES},
  keyword      = {genotype-phenotype correlation.,hearing loss,COL1A1,COL1A2,Osteogenesis Imperfecta,HEARING-LOSS,I COLLAGEN,MUTATION,MEMBERS},
  language     = {eng},
  pages        = {8},
  title        = {Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype},
  url          = {http://dx.doi.org/10.1186/1750-1172-6-88},
  volume       = {6},
  year         = {2011},
}

Chicago
SWINNEN, FREYA, Paul Coucke, Anne De Paepe, Sofie Symoens, Fransiska Malfait, Filomena V Gentile, Luca Sangiorgi, et al. 2011. “Osteogenesis Imperfecta: The Audiological Phenotype Lacks Correlation with the Genotype.” Orphanet Journal of Rare Diseases 6.
APA
SWINNEN, F., Coucke, P., De Paepe, A., Symoens, S., Malfait, F., Gentile, F. V., Sangiorgi, L., et al. (2011). Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype. ORPHANET JOURNAL OF RARE DISEASES, 6.
Vancouver
1.
SWINNEN F, Coucke P, De Paepe A, Symoens S, Malfait F, Gentile FV, et al. Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype. ORPHANET JOURNAL OF RARE DISEASES. 2011;6.
MLA
SWINNEN, FREYA, Paul Coucke, Anne De Paepe, et al. “Osteogenesis Imperfecta: The Audiological Phenotype Lacks Correlation with the Genotype.” ORPHANET JOURNAL OF RARE DISEASES 6 (2011): n. pag. Print.