{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,6,5]],"date-time":"2023-06-05T14:40:04Z","timestamp":1685976004038},"reference-count":20,"publisher":"Akademiai Kiado Zrt.","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2011,3]]},"abstract":"<jats:p>Type 1 neurofibromatosis is an autosomal dominant hamartosis, caused by mutations of the gene neurofibromin-1. The variable clinical phenotype is characterized by caf\u00e9-au-lait spots, benign neurofibromas, axillary, inguinal hyperpigmentations, iris hamartomas, skeletal deformities and risk of neurofibroma-development. Pathogenic variations of neurofibromin-1 arise as de novo mutations in approx. 50% of the cases. Aims: Molecular genetic testing of neurofibromin-1 gene has been performed in our department since 2008; the following report summarizes our experiences. Methods: 40 patients, presenting symptoms of type 1 neurofibromatosis, were screened by sequencing or multiplex ligation-dependent probe amplification. Results: Pathogenic alterations were identified in 31 cases, 8 patients presented novel mutations. In 8 affected, no mutations were detected by sequencing; one of these patients had a deletion affecting the entire gene. Conclusions: Sequencing of the neurofibromin-1 gene and screening for rearrangements are useful in identifying pathogenic alterations in most of the cases. Orv. 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Chem."},{"key":"atypb7","first-page":"1573","volume":"62","year":"2002","journal-title":"Cancer Res."},{"key":"atypb8","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1093\/nar\/gnf056","volume":"30","year":"2002","journal-title":"Nucleic. Acids Res."},{"key":"atypb9","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1007\/s00198-004-1801-4","volume":"16","year":"2005","journal-title":"Osteoporos. Int."},{"key":"atypb10","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","year":"2010","journal-title":"Nat. Methods"},{"key":"atypb11","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1086\/320121","volume":"68","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"atypb12","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/humu.10299","volume":"23","year":"2004","journal-title":"Hum. 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