ArticleOrphanet journal of rare diseases2017
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- The prevalence of spontaneous pneumothorax in patients with BHD syndrome: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.European journal of human genetics : EJHG · 2021Pooled it
- A novel pathogenic variant in folliculin identified in a Chinese family with BHD syndrome.BMC medical genomics · 2026Article
- Clinic Examination and Gene Diagnosis for a Birt-Hogg-Dubé Syndrome Family With a NovelHuman mutation · 2025Article
- Clinical and genetic investigations of five Chinese families with Birt-Hogg-Dubé syndrome: a long-term follow-up study.Frontiers in medicine · 2025Article
- Conservative management of spontaneous pneumothorax: A review of evidence and guidelines.Bioinformation · 2025Article
- Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.Orphanet journal of rare diseases · 2024Article
- A case report of Birt-Hogg-Dubé syndrome associated with severe airway obstruction in a 62-year-old female smoker.Respirology case reports · 2024Article
- Familial pulmonary cysts: A clue to diagnose Birt-Hogg-Dubé syndrome: A case report and literature review.Respirology case reports · 2024Article
- Heterozygous germline FLCN mutation in Birt-Hogg-Dubé syndrome with bilateral renal hybrid oncocytic/chromophobe tumor and unilateral renal chromophobe cell carcinoma: a case report.Journal of cancer research and clinical oncology · 2023Article
- PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.Human molecular genetics · 2023Article
- Correlative analysis of lung CT findings in patients with Birt-Hogg-Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study.BMC medical imaging · 2022Article
- Clinical and Genetic Comparison of Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases.International journal of general medicine · 2022Review
- Epidemiology and clinical features of Birt-Hogg-Dubé syndrome: A nationwide population-based study in South Korea.PloS one · 2022Article
- Article
- Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.Orphanet journal of rare diseases · 2021Article
- Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families.Orphanet journal of rare diseases · 2021Review
- A NovelFrontiers in genetics · 2021Article
- The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome.Annals of translational medicine · 2020Article
- Characterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases.Orphanet journal of rare diseases · 2020Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBirt-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.
methodsWe 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
resultsAmong 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.
conclusionsWe 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.
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