Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism (SSCP). Four diff...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2004-01-01
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| Series: | Genetics and Molecular Biology |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300003 |
| _version_ | 1819168453968265216 |
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| author | Alessandra B. Trovó Eny M. Goloni-Bertollo Ulises M. Mancini Paula Rahal Walter F. de Azevedo Jr. Eloiza H. Tajara |
| author_facet | Alessandra B. Trovó Eny M. Goloni-Bertollo Ulises M. Mancini Paula Rahal Walter F. de Azevedo Jr. Eloiza H. Tajara |
| author_sort | Alessandra B. Trovó |
| collection | DOAJ |
| description | Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism (SSCP). Four different mutations were identified and, taken together, they comprise one nonsense substitution (Q1189X), one deletion (3525-3526delAA), one missense substitution (E1356G) and one mutation in the splice acceptor site (c.4111-1G>A). One novel polymorphism (c.4514+11C>G) and other three putative polymorphisms were also found (c.3315-27G>A, V1146I and V1317A). Genotype-phenotype correlations were investigated, but no particular association was detected. |
| first_indexed | 2024-12-22T19:03:51Z |
| format | Article |
| id | doaj.art-17f093f36cf14cc1bd41d977bf5518d5 |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-12-22T19:03:51Z |
| publishDate | 2004-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-17f093f36cf14cc1bd41d977bf5518d52022-12-21T18:15:52ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852004-01-0127332633010.1590/S1415-47572004000300003Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patientsAlessandra B. TrovóEny M. Goloni-BertolloUlises M. ManciniPaula RahalWalter F. de Azevedo Jr.Eloiza H. TajaraNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism (SSCP). Four different mutations were identified and, taken together, they comprise one nonsense substitution (Q1189X), one deletion (3525-3526delAA), one missense substitution (E1356G) and one mutation in the splice acceptor site (c.4111-1G>A). One novel polymorphism (c.4514+11C>G) and other three putative polymorphisms were also found (c.3315-27G>A, V1146I and V1317A). Genotype-phenotype correlations were investigated, but no particular association was detected.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300003gene NF1GRDneurofibromatosis type 1mutationspolymorphisms |
| spellingShingle | Alessandra B. Trovó Eny M. Goloni-Bertollo Ulises M. Mancini Paula Rahal Walter F. de Azevedo Jr. Eloiza H. Tajara Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients Genetics and Molecular Biology gene NF1 GRD neurofibromatosis type 1 mutations polymorphisms |
| title | Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients |
| title_full | Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients |
| title_fullStr | Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients |
| title_full_unstemmed | Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients |
| title_short | Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients |
| title_sort | mutational analysis of the gap related domain of the neurofibromatosis type 1 gene in brazilian nf1 patients |
| topic | gene NF1 GRD neurofibromatosis type 1 mutations polymorphisms |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300003 |
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