Kluijt I, de Jong D, Teertstra H J, Axwijk P H, Gille J J P, Bell K, van Rens A, van der Velden A W G, Middelton L, Horenblas S
Family Cancer Clinic, The Netherlands Cancer Institute/Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Clin Genet. 2009 Jun;75(6):537-43. doi: 10.1111/j.1399-0004.2009.01159.x. Epub 2009 Mar 23.
Birt-Hogg-Dubé syndrome is a hereditary syndrome characterized by benign disease of skin and lungs and a risk of malignant renal tumors. We describe a clinical and genetic study of a large Dutch family with a novel mutation in the FLCN gene. Renal cancer at very young age occurred in one branch of this family, while in other branches, cutaneous and pulmonary symptoms predominated. A variety of congenital anomalies and connective tissue abnormalities were observed, possibly associated with the gene mutation.
Birt-Hogg-Dubé综合征是一种遗传性综合征，其特征为皮肤和肺部的良性疾病以及发生恶性肾肿瘤的风险。我们描述了一个荷兰大家庭的临床和遗传学研究，该家庭的FLCN基因存在一种新的突变。在这个家庭的一个分支中，非常年轻的时候就发生了肾癌，而在其他分支中，皮肤和肺部症状占主导。观察到了多种先天性异常和结缔组织异常，可能与基因突变有关。
