Neurofibromatosis type 1: a single center's experience in Korea
PurposeNeurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in...
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| Format: | Article |
| Language: | English |
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Korean Pediatric Society
2014-09-01
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| Series: | Korean Journal of Pediatrics |
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| Online Access: | http://kjp.or.kr/upload/pdf/kjped-57-410.pdf |
| _version_ | 1811310335164940288 |
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| author | Min Jeong Kim Chong Kun Cheon |
| author_facet | Min Jeong Kim Chong Kun Cheon |
| author_sort | Min Jeong Kim |
| collection | DOAJ |
| description | PurposeNeurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1.MethodsA total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed.ResultsAge of the patients at the time of NF1 diagnosis was 15.8±14.6 years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, Café-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: p.Arg2517*, p.Cys2371*; one small deletion: p.Leu1944Phefs*6).ConclusionThe clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate. |
| first_indexed | 2024-04-13T09:57:14Z |
| format | Article |
| id | doaj.art-22ad91ef7d9c4792a353da2b12481c27 |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-04-13T09:57:14Z |
| publishDate | 2014-09-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-22ad91ef7d9c4792a353da2b12481c272022-12-22T02:51:20ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582014-09-0157941041510.3345/kjp.2014.57.9.4102014600032Neurofibromatosis type 1: a single center's experience in KoreaMin Jeong Kim0Chong Kun Cheon1Department of Pediatrics, Maryknoll Medical Center, Pusan, Korea.Department of Pediatrics, Pusan National University School of Medicine, Yangsan, Korea.PurposeNeurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1.MethodsA total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed.ResultsAge of the patients at the time of NF1 diagnosis was 15.8±14.6 years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, Café-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: p.Arg2517*, p.Cys2371*; one small deletion: p.Leu1944Phefs*6).ConclusionThe clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate.http://kjp.or.kr/upload/pdf/kjped-57-410.pdfNeurofibromatosis 1Neurofibromatosis 1 genesClinical characteristics |
| spellingShingle | Min Jeong Kim Chong Kun Cheon Neurofibromatosis type 1: a single center's experience in Korea Korean Journal of Pediatrics Neurofibromatosis 1 Neurofibromatosis 1 genes Clinical characteristics |
| title | Neurofibromatosis type 1: a single center's experience in Korea |
| title_full | Neurofibromatosis type 1: a single center's experience in Korea |
| title_fullStr | Neurofibromatosis type 1: a single center's experience in Korea |
| title_full_unstemmed | Neurofibromatosis type 1: a single center's experience in Korea |
| title_short | Neurofibromatosis type 1: a single center's experience in Korea |
| title_sort | neurofibromatosis type 1 a single center s experience in korea |
| topic | Neurofibromatosis 1 Neurofibromatosis 1 genes Clinical characteristics |
| url | http://kjp.or.kr/upload/pdf/kjped-57-410.pdf |
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