Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

Orphanet Journal of Rare Diseases

Zhiyan Xu¹  Ruie Feng²  Weihong Zhang³  Xiaowen Hu⁴  Xinlun Tian⁵  Guozhen Li⁵  Xue Li⁵  Yongzhong Zhan⁵  Jun Wang⁵  Kai-Feng Xu⁵  Xue Zhang⁶  Yaping Liu⁶ 

[1] Department of Internal Medicine, Peking Union Medical College Hospital;Department of Pathology, Peking Union Medical College Hospital;Department of Radiology, Peking Union Medical College Hospital;Department of Respiratory Medicine, Anhui Provincial Hospital Affiliated to Anhui Medical University;Department of Respiratory Medicine, Chinese Academy of Medical Sciences, Peking Union Medical College Hospital;McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College;

关键词: Birt-Hogg-Dubé syndrome;    FLCN;    Mutation spectrum;   

DOI  :  10.1186/s13023-017-0656-7

来源: DOAJ

【 摘 要 】

Abstract Background Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Studies of the FLCN mutation for BHD syndrome are less prevalent in Chinese populations than in Caucasian populations. Our study aims to investigate the genotype spectrum in a group of Chinese patients with BHD. Methods We enrolled 51 patients with symptoms highly suggestive of BHD from January 2014 to February 2017. The FLCN gene was examined using PCR and Sanger sequencing in every patient, for those whose Sanger sequencing showed negative mutation results, multiplex ligation-dependent probe amplification (MLPA) testing was conducted to detect any losses of large segments. Main results Among the 51 patients, 27 had FLCN germline mutations. In total, 20 mutations were identified: 14 were novel mutations, including 3 splice acceptor site mutations, 2 different deletions, 6 nonsense mutations, 1 missense mutation, 1 small insertion, and 1 deletion of the whole exon 8. Conclusions We found a similar genotype spectrum but different mutant loci in Chinese patients with BHD compared with European and American patients, thus providing stronger evidence for the clinical molecular diagnosis of BHD in China. It suggests that mutation analysis of the FLCN gene should be systematically conducted in patients with cystic lung diseases.

【 授权许可】

Unknown