증례 : 내분비-대사 ; 제1형 신경섬유종증 가족에서 발견된 NF1 유전자 변이와 임상양상 = Case Reports : Endocrinology-metabolism ; Mutation of the NF1 Gene and the Associated Clinical Features in Family Members with Neurofibromatosis Type1

다국어 초록 (Multilingual 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. (Korean J Med 2016;90:455-459)