河北医科大学学报 ›› 2025, Vol. 46 ›› Issue (4): 453-458.doi: 10.3969/j.issn.1007-3205.2025.04.013

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FLCN基因突变在家族性自发性气胸的遗传分析

  

  1. 1.河北医科大学第四医院胸外科，河北 石家庄 050011；2.河北医科大学第四医院CT/MRI科，河北 石家庄 050011；
    3.河北医科大学第四医院门诊部，河北 石家庄 050011

  • 出版日期:2025-04-25 发布日期:2025-04-17
  • 作者简介:冯勇（1981-），男，河北藁城人，河北医科大学第四医院副主任医师，医学博士，从事肺部和食管病变诊治研究。

  • 基金资助:
    河北省医学科学研究课题计划（20201053）

Genetic analysis of FLCN gene mutation in familial spontaneous pneumothorax

  1. 1.Department of Thoracic Surgery, the Fourth Hospital of Hebei Medical University, Shijiazhuang 
    050011, China； 2.Department of CT/MRI, the Fourth Hospital of Hebei Medical University, 
    Shijiazhuang 050011,China； 3.Department of Outpatient, the Fourth Hospital of Hebei 
    Medical University, Shijiazhuang 050011,China

  • Online:2025-04-25 Published:2025-04-17

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摘要： 目的 研究家族性自发性气胸中folliculin(FLCN)基因的突变及其作用机制。
方法 收集一个三代的家族性自发性气胸患者及其家属的临床数据。随后应用肺部计算机断层扫描（computed tomography，CT）扫描观察肺部情况，并使用高通量二代测序（next generation sequencing，NGS）方法检测该家族成员中是否存在FLCN基因突变情况。
结果 CT扫描发现，这个家族在没有皮肤病变或肾肿瘤的情况下出现了气胸或肺囊肿。通过基因测序还在该家族气胸患者中发现FLCN基因的外显子6的第147位氨基酸由谷氨酰胺突变为终止子（c.493C＞T）。并且气胸患者及其子女均显示这种突变。
结论 在家族性自发性气胸患者中发现了FLCN的无义突变。这个结果扩展了伯特-霍格-杜布综合征（Birt-Hogg-Dubé syndrome，BHD)患者FLCN的突变谱。这可能是一个新的突变，仍需要对更大样本进行深入研究才能了解家族性自发性气胸的发病机制。


关键词: 气胸, 基因突变, 遗传

Abstract: Objective To study the mutation and mechanism of folliculin (FLCN) gene in familial spontaneous pneumothorax (FSP). 
 Methods Clinical data were collected from three generations of patients with FSP. Computed tomography (CT) scans of the chest were used to observe the pulmonary condition. The mutation of FLCN gene in this family was detected by next generation sequencing (NGS) method. 
 Results CT scan revealed that this family developed pneumothorax or pulmonary cysts without skin lesions or kidney tumors.Through gene sequencing, it was found that the 147th amino acid of exon 6 of the FLCN gene was mutated from glutamine to a terminator (c.493C＞T) in this family of pneumothorax patients. This mutation was also shown in both patients with pneumothorax and their children. 
 Conclusion A nonsense mutation of FLCN is found in patients with FSP. This result extends the mutation spectrum of FLCN in patients with Birt-Hogg-Dubé syndrome (BHD). This may be a new mutation, and further research is needed on larger samples to understand the pathogenesis of FSP. 


Key words: pneumothorax； gene mutation； heredity 

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