Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax
| Autor: | Li Tian, Feng Zhu, Xiao-qing Shen, Jian-fang Zhu |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Proband Pathology medicine.medical_specialty Nonsense mutation Birt–Hogg–Dubé syndrome Birt-Hogg-Dube Syndrome 03 medical and health sciences Exon 0302 clinical medicine Proto-Oncogene Proteins Humans Medicine Prospective Studies Folliculin business.industry Tumor Suppressor Proteins Pneumothorax Autosomal dominant trait General Medicine medicine.disease Pedigree respiratory tract diseases 030104 developmental biology Codon Nonsense Case-Control Studies 030220 oncology & carcinogenesis Mutation (genetic algorithm) Tomography X-Ray Computed business |
| Zdroj: | QJM. 110:23-26 |
| ISSN: | 1460-2393 1460-2725 |
| DOI: | 10.1093/qjmed/hcw109 |
| Popis: | Background: Familial spontaneous pneumothorax is one of the characteristics of Birt–Hogg–Dube syndrome (BHDS), which is an autosomal dominant disease caused by the mutation of folliculin (FLCN). Aim: To investigate the mutation of FLCN gene in a familial spontaneous pneumothorax. Design: Prospective case study. Methods: Clinical and genetic data of a Chinese family with four patients who presented spontaneous pneumothorax in the absence of skin lesions or renal tumors were collected. CT scan of patient's lung was applied for observation of pneumothorax. DNA sequencing of the coding exons (4-14 exons) of FLCN was performed for all 11 members of the family and 100 unrelated healthy controls. Results: CT scan of patient’s lung showed spontaneous pneumothorax. A mutation (c. 510C>G) that leads to a premature stop codon (p. Y170X) was found in the proband using DNA sequencing of coding exons (4-14 exons) of FLCN. This mutation was also observed in the other affected members of the family. Conclusions: A nonsense mutation of FLCN was found in a spontaneous pneumothorax family. Our results expand the mutational spectrum of FLCN in patients with BHDS. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|