Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
<p>Abstract</p> <p>Background</p> <p>Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes <it>COL1A1 </it>and <it>COL1A2 </it>and is associated with hearing loss in approximately half of t...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-12-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://www.ojrd.com/content/6/1/88 |
| _version_ | 1818117401702563840 |
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| author | Swinnen Freya KR Coucke Paul J De Paepe Anne M Symoens Sofie Malfait Fransiska Gentile Filomena V Sangiorgi Luca D'Eufemia Patrizia Celli Mauro Garretsen Ton JTM Cremers Cor WRJ Dhooge Ingeborg JM De Leenheer Els MR |
| author_facet | Swinnen Freya KR Coucke Paul J De Paepe Anne M Symoens Sofie Malfait Fransiska Gentile Filomena V Sangiorgi Luca D'Eufemia Patrizia Celli Mauro Garretsen Ton JTM Cremers Cor WRJ Dhooge Ingeborg JM De Leenheer Els MR |
| author_sort | Swinnen Freya KR |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes <it>COL1A1 </it>and <it>COL1A2 </it>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.</p> <p>Methods</p> <p>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 <it>COL1A1 </it>or <it>COL1A2 </it>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.</p> <p>Results</p> <p>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 <it>COL1A1 </it>or <it>COL1A2 </it>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.</p> <p>Conclusions</p> <p>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.</p> |
| first_indexed | 2024-12-11T04:37:50Z |
| format | Article |
| id | doaj.art-820762343f68459d85108f52732e9bfb |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-11T04:37:50Z |
| publishDate | 2011-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-820762343f68459d85108f52732e9bfb2022-12-22T01:20:42ZengBMCOrphanet Journal of Rare Diseases1750-11722011-12-01618810.1186/1750-1172-6-88Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotypeSwinnen Freya KRCoucke Paul JDe Paepe Anne MSymoens SofieMalfait FransiskaGentile Filomena VSangiorgi LucaD'Eufemia PatriziaCelli MauroGarretsen Ton JTMCremers Cor WRJDhooge Ingeborg JMDe Leenheer Els MR<p>Abstract</p> <p>Background</p> <p>Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes <it>COL1A1 </it>and <it>COL1A2 </it>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.</p> <p>Methods</p> <p>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 <it>COL1A1 </it>or <it>COL1A2 </it>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.</p> <p>Results</p> <p>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 <it>COL1A1 </it>or <it>COL1A2 </it>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.</p> <p>Conclusions</p> <p>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.</p>http://www.ojrd.com/content/6/1/88Osteogenesis Imperfecta<it>COL1A1</it><it>COL1A2</it>hearing lossgenotype-phenotype correlation |
| spellingShingle | Swinnen Freya KR Coucke Paul J De Paepe Anne M Symoens Sofie Malfait Fransiska Gentile Filomena V Sangiorgi Luca D'Eufemia Patrizia Celli Mauro Garretsen Ton JTM Cremers Cor WRJ Dhooge Ingeborg JM De Leenheer Els MR Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype Orphanet Journal of Rare Diseases Osteogenesis Imperfecta <it>COL1A1</it> <it>COL1A2</it> hearing loss genotype-phenotype correlation |
| title | Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype |
| title_full | Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype |
| title_fullStr | Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype |
| title_full_unstemmed | Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype |
| title_short | Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype |
| title_sort | osteogenesis imperfecta the audiological phenotype lacks correlation with the genotype |
| topic | Osteogenesis Imperfecta <it>COL1A1</it> <it>COL1A2</it> hearing loss genotype-phenotype correlation |
| url | http://www.ojrd.com/content/6/1/88 |
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