Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
<b>Background</b>: To our knowledge, this is the first report of patient with BHD syndrome caused by a novel mutation in the FLCN gene who developed a cerebral venous sinus thrombosis(CVST).<b>Case presentation</b>: A 62-year-old male patient with a history of hypertension and two case of spontaneous pneumothorax.
|
31694440 |
2019 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study is to present a Turkish family in which 13 members from three generations of the same family developed recurrent isolated spontaneous pneumothorax with a novel mutation in the FLCN.
|
31625278 |
2019 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dube (BHD) disease is an autosomal dominant cancer syndrome characterized by benign skin tumors, renal cancer and spontaneous pneumothorax and is caused by mutations in the Folliculin (FLCN) gene.
|
28623476 |
2018 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the novel tumor suppressor gene FLCN are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome that predisposes to fibrofolliculomas, lung cysts and spontaneous pneumothorax, and an increased risk for developing kidney tumors.
|
28970150 |
2018 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation of FLCN was found in a spontaneous pneumothorax family.
|
27486260 |
2017 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant disease characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax; its cause is a heterozygous mutation in the FLCN gene.
|
28805452 |
2017 |
Spontaneous pneumothorax
|
0.700 |
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 |
Spontaneous pneumothorax
|
0.700 |
Biomarker
|
disease |
BEFREE |
Promoter methylation is not associated with FLCN irregulation in lung cyst lesions of primary spontaneous pneumothorax.
|
26398834 |
2015 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax.
|
25807935 |
2015 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified a de novo FLCN mutation, c.499C>T (p.Gln167X), in a patient who presented with spontaneous pneumothorax.
|
23264078 |
2013 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax.
|
22446046 |
2012 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the folliculin (FLCN) gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS), a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothorax, and the development of renal neoplasias.
|
21162720 |
2010 |
Spontaneous pneumothorax
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation.
|
19483054 |
2009 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the folliculin gene are associated with cystic lung lesions in an otherwise morphological normal lung and predispose to spontaneous pneumothorax.
|
18579543 |
2008 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.
|
18505456 |
2008 |
Spontaneous pneumothorax
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Several individuals with a family history of spontaneous pneumothorax have a mutation in the folliculin gene.
|
16825879 |
2006 |
Spontaneous pneumothorax
|
0.700 |
Biomarker
|
disease |
CTD_human |
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 |
Spontaneous pneumothorax
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|