Abstract：
Neurofibromatosis type 1 (NF1) is an autosomal dominant multi-organ disease. The clinical manifestations include not only skin lesions and malignant tumors but also lung complications, including pulmonary arterial hypertension (PAH). However, the association between gene mutations in NF1 and the occurrence of PAH has not yet been elucidated. We herein report a case of isolated PAH in a 67-year-old woman with NF1, presumably caused by a novel heterozygous mutation, c.4485_4486delinsAT (p.Lys1496Ter), in the NF1 gene.
摘要：
1型神经纤维瘤病（NF1）是一种常染色体显性遗传多器官疾病。临床表现不仅包括皮肤病变和恶性肿瘤，还包括肺部并发症，包括肺动脉高压(PAH)。然而,NF1基因突变与PAH发生之间的关联尚未阐明.我们在此报告了一个67岁的NF1女性中分离的PAH病例，可能是由一种新的杂合突变引起的。c.4485_4486delinsAT（p。Lys1496Ter），NF1基因。
