The Spectrum of NF1 Gene Variations in Southeastern Turkey
Aim:We aimed to expand the variant spectrum of the NF1 gene in Southeastern Turkey. Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement. The pathogenic variations of the NF1 gene are responsible for the NF1 phenotype.Mate...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2021-09-01
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| Series: | Journal of Pediatric Research |
| Subjects: | |
| Online Access: |
http://jpedres.org/archives/archive-detail/article-preview/the-spectrum-of-inf1-i-gene-variations-in-southeas/48644
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| _version_ | 1828023329376698368 |
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| author | Emre Kırat Hatice Mutlu Albayrak |
| author_facet | Emre Kırat Hatice Mutlu Albayrak |
| author_sort | Emre Kırat |
| collection | DOAJ |
| description | Aim:We aimed to expand the variant spectrum of the NF1 gene in Southeastern Turkey. Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement. The pathogenic variations of the NF1 gene are responsible for the NF1 phenotype.Materials and Methods:In this study, clinical and molecular manifestations of 92 molecularly confirmed NF1 patients from 86 unrelated families are presented. The next-generation sequencing method (using Ion Torrent PGM™ Platform) was performed to analyze all coding exons of the NF1 gene.Results:Seventy-six different NF1 variations were identified with 27 of them being novel. 42.5% of the patients were familial and 57.5% were sporadic. Except for one 20-year-old patient with c.1637dupT variant who presented with pilocytic astrocytoma without cutaneous findings, all the other patients demonstrated several typical clinical criteria of NF1.Conclusion:Although NF1 diagnostic criteria are the most widely used and proficient clinical diagnostic tool, NF1 gene analysis can be applied as a definitive diagnostic tool in cases with atypical presentations and in early childhood. |
| first_indexed | 2024-04-10T12:25:50Z |
| format | Article |
| id | doaj.art-aba627392163402e9f19336eebd58bb0 |
| institution | Directory Open Access Journal |
| issn | 2147-9445 2587-2478 |
| language | English |
| last_indexed | 2024-04-10T12:25:50Z |
| publishDate | 2021-09-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Journal of Pediatric Research |
| spelling | doaj.art-aba627392163402e9f19336eebd58bb02023-02-15T16:15:13ZengGalenos YayineviJournal of Pediatric Research2147-94452587-24782021-09-018328629610.4274/jpr.galenos.2021.0337913049054The Spectrum of NF1 Gene Variations in Southeastern TurkeyEmre Kırat0Hatice Mutlu Albayrak1 Gaziantep Ersin Arslan Training and Research Hospital, Clinic of Medical Genetics, Gaziantep, Turkey Cengiz Gökçek Maternity and Children’s Hospital, Clinic of Pediatric Genetics, Gaziantep, Turkey Aim:We aimed to expand the variant spectrum of the NF1 gene in Southeastern Turkey. Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement. The pathogenic variations of the NF1 gene are responsible for the NF1 phenotype.Materials and Methods:In this study, clinical and molecular manifestations of 92 molecularly confirmed NF1 patients from 86 unrelated families are presented. The next-generation sequencing method (using Ion Torrent PGM™ Platform) was performed to analyze all coding exons of the NF1 gene.Results:Seventy-six different NF1 variations were identified with 27 of them being novel. 42.5% of the patients were familial and 57.5% were sporadic. Except for one 20-year-old patient with c.1637dupT variant who presented with pilocytic astrocytoma without cutaneous findings, all the other patients demonstrated several typical clinical criteria of NF1.Conclusion:Although NF1 diagnostic criteria are the most widely used and proficient clinical diagnostic tool, NF1 gene analysis can be applied as a definitive diagnostic tool in cases with atypical presentations and in early childhood. http://jpedres.org/archives/archive-detail/article-preview/the-spectrum-of-inf1-i-gene-variations-in-southeas/48644 nf1next-generation sequencingsoutheastern turkey |
| spellingShingle | Emre Kırat Hatice Mutlu Albayrak The Spectrum of NF1 Gene Variations in Southeastern Turkey Journal of Pediatric Research nf1 next-generation sequencing southeastern turkey |
| title | The Spectrum of NF1 Gene Variations in Southeastern Turkey |
| title_full | The Spectrum of NF1 Gene Variations in Southeastern Turkey |
| title_fullStr | The Spectrum of NF1 Gene Variations in Southeastern Turkey |
| title_full_unstemmed | The Spectrum of NF1 Gene Variations in Southeastern Turkey |
| title_short | The Spectrum of NF1 Gene Variations in Southeastern Turkey |
| title_sort | spectrum of nf1 gene variations in southeastern turkey |
| topic | nf1 next-generation sequencing southeastern turkey |
| url |
http://jpedres.org/archives/archive-detail/article-preview/the-spectrum-of-inf1-i-gene-variations-in-southeas/48644
|
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