"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements
<p>Abstract</p> <p>Background</p> <p>Cryptic subtelomeric rearrangements have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been studied. As positive family history of ID had bee...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2012-01-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | http://www.molecularcytogenetics.org/content/5/1/4 |
| _version_ | 1811298482718244864 |
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| author | Rafati Maryam Ghadirzadeh Mohammad R Heshmati Yaser Adibi Homeira Keihanidoust Zarrintaj Eshraghian Mohammad R Dastan Jila Hoseini Azadeh Purhoseini Marzieh Ghaffari Saeed R |
| author_facet | Rafati Maryam Ghadirzadeh Mohammad R Heshmati Yaser Adibi Homeira Keihanidoust Zarrintaj Eshraghian Mohammad R Dastan Jila Hoseini Azadeh Purhoseini Marzieh Ghaffari Saeed R |
| author_sort | Rafati Maryam |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Cryptic subtelomeric rearrangements have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been studied. As positive family history of ID had been proposed as an important and significant predicting factor of subtelomeric rearrangements, it was assumed that the contribution of subtelomeric aberrations in familial ID would be much more than the sporadic ones. Three hundred and twenty two patients from 102 unrelated families with more than two ID patients in the first degree relatives have been investigated. Assessment of subtelomeric rearrangements were carried out using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique. Detected aberrations were then confirmed by Fluorescence in Situ Hybridization (FISH) method.</p> <p>Results</p> <p>Among the families studied, 27.4% had 4-12, 36.3% had 3 and 36.3% had 2 affected individuals in the first degree relatives. One unbalanced translocation and 4 polymorphic changes were detected. The prevalence of clinically significant subtelomeric rearrangements was 0.98%.</p> <p>Conclusion</p> <p>This is the first investigation of subtelomeric aberrations in a large sample set of familial ID patients. Our results show that the contribution of subtelomeric rearrangements to familial ID is not as much as what had been determined for sporadic ones in the literature. Moreover, this study shows that the positive family history by alone, cannot be the most important and determining indicator of subtelomeric aberrations while it would be a good predicting factor when associated with dysmorphism or congenital malformations. These findings propose that other cryptic chromosomal abnormalities or even single gene disorders may be the main cause of familial ID rather than subtelomeric aberrations.</p> |
| first_indexed | 2024-04-13T06:20:03Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-04-13T06:20:03Z |
| publishDate | 2012-01-01 |
| publisher | BMC |
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| series | Molecular Cytogenetics |
| spelling | doaj.art-73c171d4bf6244d390a89abc02eee07e2022-12-22T02:58:41ZengBMCMolecular Cytogenetics1755-81662012-01-0151410.1186/1755-8166-5-4"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangementsRafati MaryamGhadirzadeh Mohammad RHeshmati YaserAdibi HomeiraKeihanidoust ZarrintajEshraghian Mohammad RDastan JilaHoseini AzadehPurhoseini MarziehGhaffari Saeed R<p>Abstract</p> <p>Background</p> <p>Cryptic subtelomeric rearrangements have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been studied. As positive family history of ID had been proposed as an important and significant predicting factor of subtelomeric rearrangements, it was assumed that the contribution of subtelomeric aberrations in familial ID would be much more than the sporadic ones. Three hundred and twenty two patients from 102 unrelated families with more than two ID patients in the first degree relatives have been investigated. Assessment of subtelomeric rearrangements were carried out using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique. Detected aberrations were then confirmed by Fluorescence in Situ Hybridization (FISH) method.</p> <p>Results</p> <p>Among the families studied, 27.4% had 4-12, 36.3% had 3 and 36.3% had 2 affected individuals in the first degree relatives. One unbalanced translocation and 4 polymorphic changes were detected. The prevalence of clinically significant subtelomeric rearrangements was 0.98%.</p> <p>Conclusion</p> <p>This is the first investigation of subtelomeric aberrations in a large sample set of familial ID patients. Our results show that the contribution of subtelomeric rearrangements to familial ID is not as much as what had been determined for sporadic ones in the literature. Moreover, this study shows that the positive family history by alone, cannot be the most important and determining indicator of subtelomeric aberrations while it would be a good predicting factor when associated with dysmorphism or congenital malformations. These findings propose that other cryptic chromosomal abnormalities or even single gene disorders may be the main cause of familial ID rather than subtelomeric aberrations.</p>http://www.molecularcytogenetics.org/content/5/1/4Familial Intellectual DisabilityMental RetardationSubtelomeric RearrangementsFamily History |
| spellingShingle | Rafati Maryam Ghadirzadeh Mohammad R Heshmati Yaser Adibi Homeira Keihanidoust Zarrintaj Eshraghian Mohammad R Dastan Jila Hoseini Azadeh Purhoseini Marzieh Ghaffari Saeed R "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements Molecular Cytogenetics Familial Intellectual Disability Mental Retardation Subtelomeric Rearrangements Family History |
| title | "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements |
| title_full | "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements |
| title_fullStr | "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements |
| title_full_unstemmed | "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements |
| title_short | "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements |
| title_sort | familial versus sporadic intellectual disability contribution of subtelomeric rearrangements |
| topic | Familial Intellectual Disability Mental Retardation Subtelomeric Rearrangements Family History |
| url | http://www.molecularcytogenetics.org/content/5/1/4 |
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