Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis
Tuberous sclerosis is an autosomal dominant multisystem disorder characterized by hamartomatous growths in different organs. Disease determining genes are localized to 9q34 (TSC1) and 16p13.3 (TSC2). Two-thirds of the cases are sporadic and result from new mutations. The aim of this study was...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2003-01-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2844 |
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| author | Anil Apak Göknur Haliloğlu Gülşen Köse Engin Yilmaz Banu Anlar Sabiha Aysun |
| author_facet | Anil Apak Göknur Haliloğlu Gülşen Köse Engin Yilmaz Banu Anlar Sabiha Aysun |
| author_sort | Anil Apak |
| collection | DOAJ |
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Tuberous sclerosis is an autosomal dominant multisystem disorder characterized by hamartomatous growths in different organs. Disease determining genes are localized to 9q34 (TSC1) and 16p13.3 (TSC2). Two-thirds of the cases are sporadic and result from new mutations. The aim of this study was to determine TSC2 gene mutations by Single Stranded Conformation Polymorphism (SSCP) analysis and direct sequencing in 33 familial cases with tuberous sclerosis who were followed up in the Pediatric Neurology Departments of Hacettepe University Ihsan Doğramaci and Ankara Social Security Children's Hospitals. Forty-one exons of TSC2 gene were amplified and subjected to SSCP, and sequence analysis was performed when an abnormal SSCP pattern was observed. As a result, six new mutations and nine gene polymorphisms were detected. The new mutations are G-->T mutation in exon 20, 16bp deletion in exon 29, 18bp deletion in exon 40, 538 G-->A mutation in exon 29, T-->C mutation in exon 21 and G-->A splice site mutation in exon 5. Although further studies on larger groups are needed, these results do not indicate a common region or type of mutation in the Turkish population.
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| format | Article |
| id | doaj-art-0c6156e720b24a0f9e5109cd85016ba0 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2003-01-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-0c6156e720b24a0f9e5109cd85016ba02025-08-20T02:55:24ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212003-01-01451Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosisAnil Apak0Göknur HaliloğluGülşen KöseEngin YilmazBanu AnlarSabiha AysunDepartment of Pediatric Neurology, Hacettepe University Faculty of Medicine, Social Security Children's Hospital, Ankara, Turkey. Tuberous sclerosis is an autosomal dominant multisystem disorder characterized by hamartomatous growths in different organs. Disease determining genes are localized to 9q34 (TSC1) and 16p13.3 (TSC2). Two-thirds of the cases are sporadic and result from new mutations. The aim of this study was to determine TSC2 gene mutations by Single Stranded Conformation Polymorphism (SSCP) analysis and direct sequencing in 33 familial cases with tuberous sclerosis who were followed up in the Pediatric Neurology Departments of Hacettepe University Ihsan Doğramaci and Ankara Social Security Children's Hospitals. Forty-one exons of TSC2 gene were amplified and subjected to SSCP, and sequence analysis was performed when an abnormal SSCP pattern was observed. As a result, six new mutations and nine gene polymorphisms were detected. The new mutations are G-->T mutation in exon 20, 16bp deletion in exon 29, 18bp deletion in exon 40, 538 G-->A mutation in exon 29, T-->C mutation in exon 21 and G-->A splice site mutation in exon 5. Although further studies on larger groups are needed, these results do not indicate a common region or type of mutation in the Turkish population. https://turkjpediatr.org/article/view/2844 |
| spellingShingle | Anil Apak Göknur Haliloğlu Gülşen Köse Engin Yilmaz Banu Anlar Sabiha Aysun Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis The Turkish Journal of Pediatrics |
| title | Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis |
| title_full | Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis |
| title_fullStr | Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis |
| title_full_unstemmed | Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis |
| title_short | Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis |
| title_sort | mutation analysis of tsc2 gene in 33 turkish familial cases with tuberous sclerosis |
| url | https://turkjpediatr.org/article/view/2844 |
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