Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome
Joint Authors
Liu, Lv
Luo, Hong
Yang, Kai
Wang, Xiang
Shi, Zhihui
Yuan, Yu
Guo, Ting
Xiao, Xiaocui
Yang, Yifeng
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-07-12
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Birt-Hogg-Dube syndrome (BHD, OMIM#135150) is a rare disease in clinic; it is characterized by skin fibrofolliculomas, pulmonary cysts with an increased risk of recurrent pneumothorax, renal cysts, and renal neoplasms.
Previous studies have demonstrated that variants in folliculin (FLCN, NM_144997) are mainly responsible for this disease.
In this research, we enrolled two BHD families and applied direct sequencing of FLCN to explore the genetic lesions in them.
Two FLCN mutations were identified: one is a novel deletion variant (c.668delA/p.N223TfsX19), while the other is a previously reported insertion mutation (c.1579_1580insA/p.R527QfsX75).
And the pathogenicity of both variants was confirmed by cosegregation assay.
Bioinformatics analysis showed that c.668delA may lead to functional haploinsufficiency of FLCN because mRNA carrying this mutation exhibits a faster degradation rate comparing to the wild type.
Real-time qPCR also confirmed that the mRNA level of FLCN expression in the proband was decreased significantly compared with the controls, which may disrupt the mTOR pathway and lead to BHD.
The insertion mutation (c.1579_1580insA) was predicted to cause a prolonged amino acid sequence of FLCN.
The present identification of two mutations not only further supports the important role of tumor suppressor FLCN in BHD and primary spontaneous pneumothorax, but also expands the spectrum of FLCN mutations and will provide insight into genetic diagnosis and counseling of families with BHD.
American Psychological Association (APA)
Liu, Lv& Yang, Kai& Wang, Xiang& Shi, Zhihui& Yang, Yifeng& Yuan, Yu…[et al.]. 2017. Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome. BioMed Research International،Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1139261
Modern Language Association (MLA)
Liu, Lv…[et al.]. Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome. BioMed Research International No. 2017 (2017), pp.1-6.
https://search.emarefa.net/detail/BIM-1139261
American Medical Association (AMA)
Liu, Lv& Yang, Kai& Wang, Xiang& Shi, Zhihui& Yang, Yifeng& Yuan, Yu…[et al.]. Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome. BioMed Research International. 2017. Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1139261
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1139261