Birt-Hogg-Dubé syndrome caused by a mutation of FLCN gene in a CVST patient: a case report

Han, Jingzhe; Hao, Jincui; Liu, Ruqian; Xie, Yanling; Kang, Zhilei

doi:10.1080/00207454.2019.1691204

Cited by 2 publications

(3 citation statements)

References 14 publications

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“…As the most serious clinical manifestation of BHD, screening for renal tumours at the time of diagnosis or from the age of 20 years is crucial to improve the prognosis. 48 However, only 9 patients 16 , 18 , 21 , 24 , 29 , 37 , 38 in our analysis who had a record age of diagnosis of renal cancer were also diagnosed with BHD within one year. Most of these patients were considered to have BHD because of pulmonary cysts or a history of pneumothorax on routine screening at the time of renal cancer surgery.…”

Section: Discussionmentioning

confidence: 71%

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Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases

Zhou¹,

Liu²,

Xu³

et al. 2022

IJGM

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Background Birt–Hogg–Dubé syndrome (BHD), also named Hornstein–Knickenberg syndrome, is a rare autosomal dominant disease characterized by lung cysts, recurrent pneumothoraxes, renal cell carcinoma and skin fibrofolliculomas. Purpose This study summarizes the clinical and genetic information of Chinese BHD patients from all available reported cases and explores the relationship between the clinical and genetic spectrum in the hope of improving the prognosis of Chinese BHD patients. Methods Relative studies were collected by searching PubMed, Cochrane Library, Embase, OVID medicine, SinoMed, Web of Science, China National Knowledge Infrastructure, Wanfang Data and China Hospital Knowledge Database from January 1, 1977 to December 31, 2021. The search strategy included the following term keys: (Birt–Hogg–Dubé syndrome OR Hornstein-Kinckenberg syndrome OR familial pulmonary cysts OR familial spontaneous pneumothorax OR fibrofolliculomas OR trichodiscomas OR inherited renal cancer syndromes OR FLCN ) AND (Chinese OR China). Results In total, 287 Chinese patients from 143 families described in 31 references were included in this article. Chinese BHD patients tended to present more pulmonary symptoms but fewer skin lesions and renal malignancies, which appeared to be atypical when compared with Caucasian patients. The FLCN mutation spectrum among Chinese BHD patients was established with the mutational hot spot c.1285depC/delC as the most frequent mutation. In addition, this mutation spectrum also showed some differences from other races, with a relatively frequent large deletion c.872–429_1740+1763del (exon 9–14 deletion) reported only in Chinese individuals but no observation of the two mutational hot spots found in Japanese individuals. We also attempted to establish potential pheno-genotype correlations in Chinese BHD patients, but the results were negative. Conclusion To improve the prognosis of BHD patients, physicians need to increase their awareness of BHD by focusing on the family history of pneumothorax as well as skin lesions in patients with lung cysts and promptly advising patients on genetic sequencing.

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Section: Discussionmentioning

confidence: 71%

“…In our study, only 1 (1/287, 0.3%) patient had all four typical symptoms mentioned above. 16 In addition to insufficient awareness of the disease, physicians tend to treat each symptom individually and might ignore the presence of BHD, which leads to a high rate of misdiagnosis and missed diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases

Zhou¹,

Liu²,

Xu³

et al. 2022

IJGM

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“…The folliculin ( FLCN ) gene is considered to be a tumor suppressor. Localized in the short arm of chromosome 17p11.2, it contains 14 exons, 11 of which encode a 579-amino-acid-long protein called folliculin ( Han et al, 2020 ). Germline mutations of the FLCN gene were identified to be responsible for BHDS in 2002 ( Nickerson et al, 2002 ).…”

Section: Introductionmentioning

confidence: 99%

Identification of a Novel Pathogenic Folliculin Variant in a Chinese Family With Birt–Hogg–Dubé Syndrome (Hornstein-Knickenberg Syndrome)

Zong

Liu

et al. 2020

Front. Genet.

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Birt-Hogg-Dubé syndrome (BHDS), which is also called Hornstein-Knickenberg syndrome (HKS), is a hereditary autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN, NM_144997). More pulmonary manifestations (pulmonary cysts and recurrent pneumothoraxes) but fewer skin fibrofolliculomas and renal malignancy are found in Asian BHDS patients compared with other BHDS patients. The atypical manifestation can easily lead to a missed or delayed diagnosis. Here, we report a Chinese family with BHDS that presented with primary spontaneous pneumothorax (PSP) and extensive pulmonary cysts in the absence of skin lesions or renal neoplasms. Next-generation sequencing (NGS) was used to sequence the FLCN gene, and Sanger sequencing was carried out on the samples to confirm the presence of these variants. Among the 13 family members, a novel frameshift variant of FLCN (c.912delT/p.E305KfsX18) was identified in seven individuals. This variant has not been reported before. Bioinformatics analysis showed that the novel variant might lead to a premature stop codon after 18 amino acid residues in exon 9, and this may affect the expression level of FLCN. The identification of this novel frameshift variant of FLCN not only further confirms the familial inheritance of BHDS in the proband but also expands the mutational spectrum of the FLCN gene in patients with BHDS.

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Birt-Hogg-Dubé syndrome caused by a mutation of FLCN gene in a CVST patient: a case report

Cited by 2 publications

References 14 publications

Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases

Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases

Identification of a Novel Pathogenic Folliculin Variant in a Chinese Family With Birt–Hogg–Dubé Syndrome (Hornstein-Knickenberg Syndrome)

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