PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous mutation c. 1273C>T (p.Gln425Ter) was detected in exon 11 of the FLCN, which caused PSP in the proband and his 12 relatives tested using Sanger sequencing.
|
31625278 |
2019 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel nonsense mutation of FLCN gene was found in a large family with PSP in China.
|
31567476 |
2019 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We recommend that molecular analysis of the FLCN gene be performed in patients with PSP and their families, and that mutation carriers be examined for kidney and colon tumors.
|
28805452 |
2017 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
Biomarker
|
disease |
BEFREE |
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 <i>FLCN</i> mutations and will provide insight into genetic diagnosis and counseling of families with BHD.
|
28785590 |
2017 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Primary spontaneous pneumothorax (PSP) or pulmonary cysts is one of the manifestations of Birt-Hogg-Dube syndrome (BHDS) that is caused by heterozygous mutations in FLCN gene.
|
27229674 |
2016 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Birt-Hogg-Dubé syndrome: a large single family cohort.
|
26928018 |
2016 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine large FLCN deletions in PSP families that having no FLCN sequence-mutations.
|
25807935 |
2015 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
No inheritable DNA defect was detected, with the exception of a heterozygous deletion spanning the FLCN promoter, which was identified in a family with PSP.
|
26398834 |
2015 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation.
|
25126726 |
2014 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Birt-Hogg-Dube syndrome is a novel ciliopathy.
|
23784378 |
2013 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax.
|
22446046 |
2012 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition FLCN mutations have also been described in families with isolated primary spontaneous pneumothorax (PSP) and also familial clear cell renal carcinomas (FcRCC).
|
19802896 |
2010 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation.
|
19483054 |
2009 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Primary spontaneous pneumothorax (PSP) is a common manifestation of Birt-Hogg-Dubé syndrome caused by folliculin gene (FLCN) mutation, which is also found in isolated familial PSP cases.
|
18505456 |
2008 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.
|
18505456 |
2008 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the folliculin gene associated with spontaneous pneumothorax.
|
18579543 |
2008 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Primary spontaneous pneumothorax (PSP) is a common manifestation of Birt-Hogg-Dubé syndrome caused by folliculin gene (FLCN) mutation, which is also found in isolated familial PSP cases.
|
18505456 |
2008 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
|
15852235 |
2005 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.
|
15657874 |
2005 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.
|
15657874 |
2005 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.
|
15805188 |
2005 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.
|
12204536 |
2002 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|