ArticleOrphanet journal of rare diseases2023
Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.
Article in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 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
- Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.International journal of molecular sciences · 2026Article
- First published report of the FLCN c.1222 C > T (p.Gln408Ter) variant in a Chinese family with Birt-Hogg-Dubé syndrome and literature review.BMC medical genomics · 2026Review
- Substrate-selective mTORC1 regulation and gene dosage-dependent tissue divergence in Birt-Hogg-Dubé syndrome.Frontiers in oncology · 2026Review
- A Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features, and Molecular Diagnosis.Current issues in molecular biology · 2025Review
- Evolution of cystic lung disease in Birt-Hogg-Dubé syndrome: assessment of older patients.BMJ open respiratory research · 2025Article
- Prevalence and recurrence rates of spontaneous pneumothorax in patients with diffuse cystic lung diseases in China.Orphanet journal of rare diseases · 2025Article
- Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.Orphanet journal of rare diseases · 2024Article
- Transfer Learning in Cancer Genetics, Mutation Detection, Gene Expression Analysis, and Syndrome Recognition.Cancers · 2024Review
- Hereditary Renal Cancer Syndromes.Medical sciences (Basel, Switzerland) · 2024Review
- Spontaneous pneumothorax-associated with genetic disorders.Therapeutic advances in respiratory diseaseReview
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe pathogenic variants responsible for Birt-Hogg-Dubé syndrome (BHDS) in folliculin (FLCN) gene mostly consist of point mutations. Although large intragenic deletions/duplications have been reported in several case reports, the relationship between large intragenic deletions/duplications and phenotype in BHDS remains unclear.
methodsWe retrospectively identified and reviewed patients with a large intragenic deletion spanning exons 1-3 and analyzed their phenotypic features to compare with those of point mutation carriers in our hospital from January 1, 2017 to August 31, 2022.
resultsTwenty unique point mutations (including 4 novel mutations) were detected in 62 patients from 45 families (90%). Exons 1-3 deletion were identified in 8 patients from 5 families (10%) that resided in the same region, Feidong County of Anhui Province, China. Breakpoint analysis indicated that all the deletion breakpoints were flanked by Alu repeats. The prevalence of exons 1-3 deletion carriers in Feidong County was 8.1-times higher than that for BHDS in Anhui Province, suggesting a clustered phenomenon of exons 1-3 deletion. Significantly increased risk of pneumothorax was observed in those with exons 1-3 deletion compared with point mutations (91% vs. 58%, p value 0.047). The risk of renal cancer may be higher in those with exons 1-3 deletion than for those with point mutations (18% vs. 4%, p > 0.05).
conclusionsLarge intragenic deletion of exons 1-3 in FLCN was identified as a local aggregation phenomenon in Feidong County, China, and was associated with a significantly higher risk of pneumothorax compared to those with point mutations.
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