Mutation of the NF1 Gene and the Associated Clinical Features in Family Members with Neurofibromatosis Type 1
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
With an incidence of 1 per 2,500-3,000 individuals, neurofibromatosis type 1 (NF1) is the most common autosomal dominant disorder in humans. NF1 is caused by germline mutations of the NF1 gene, but to date genotype-phenotype analyses have indicated no clear relationship between specific gene mutations and the clinical features of this disease, even among family members with the same mutation. The present study describes a case of two siblings with NF1 with the same genetic mutation but different clinical manifestations. The first patient was a female with iris Lisch nodules, an adrenal incidentaloma, Graves’ disease, and skin manifestations, while the second patient, the first patient’s younger brother, exhibited only skin neurofibromas and freckling. Further study is needed to reveal the molecular processes underlying gene expression and phenotypes. A better understanding of the genetics associated with NF1 will allow clinicians to detect complications earlier and provide better genetic counseling to NF1 families.
Abstract
With an incidence of 1 per 2,500-3,000 individuals, neurofibromatosis type 1 (NF1) is the most common autosomal dominant disorder in humans. NF1 is caused by germline mutations of the NF1 gene, but to date genotype-phenotype analyses have indicated no clear relationship between specific gene mutations and the clinical features of this disease, even among family members with the same mutation. The present study describes a case of two siblings with NF1 with the same genetic mutation but different clinical manifestations. The first patient was a female with iris Lisch nodules, an adrenal incidentaloma, Graves’ disease, and skin manifestations, while the second patient, the first patient’s younger brother, exhibited only skin neurofibromas and freckling. Further study is needed to reveal the molecular processes underlying gene expression and phenotypes. A better understanding of the genetics associated with NF1 will allow clinicians to detect complications earlier and provide better genetic counseling to NF1 families.
참고문헌 (10)
- Williams VC, "Neurofibromatosis type 1 revisited", Pediatrics, 123, pp.124~133 (2009)
- Cichowski K, "NF1 tumor suppressor gene function : narrowing the GAP", Cell, 104, pp.593~604 (2001)
- Riccardi VM, "Penetrance of von Recklinghausen neurofibromatosis : a distinction between predecessors and descendants", Am J Hum Genet, 42, pp.284~289 (1988)
- "National Institutes of Health Consensus Development Conference Statement : neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987", Neurofibromatosis, 1, pp.172~178 (1988)
- Ko JM, "Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1", Pediatr Neurol, 48, pp.447~453 (2013)
- Kim SJ, "A case of non-Hodgkin's lymphoma in a patient with neurofibromatosis type 1", Korean J Intern Med, 18, pp.202~205 (2003)
- Sang Hoon Han, "Malignant Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis type 1", The Korean Journal of Internal Medicine, 22(1), pp.21~23 (2007), 대한내과학회
- Brinckmann A, "Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing", Electrophoresis, 28, pp.4295~4301 (2007)
- Sakane N, "von Recklinghausen's disease with hyperthyroidism", Intern Med, 36, pp.938~ (1997)
- Bolko P, "Graves' disease and hyperprolactinemia in a patient with Noonan syndrome neurofibromatosis type 1", Ann Endocrinol(Paris), 65, pp.121~124 (2004)