Folliculin

FLCN
Folliculin also known as FLCN, Birt-Hogg-Dubé syndrome protein or FLCN_HUMAN is a protein that in humans is associated with Birt-Hogg-Dubé syndrome and hereditary spontaneous pneumothorax.wikipedia
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Birt–Hogg–Dubé syndrome

Birt-Hogg-Dubé syndromeBirt–Hogg–Dube syndromeBirt-Hogg-Dube syndrome
Folliculin also known as FLCN, Birt-Hogg-Dubé syndrome protein or FLCN_HUMAN is a protein that in humans is associated with Birt-Hogg-Dubé syndrome and hereditary spontaneous pneumothorax. Germline mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome (BHD), an autosomal dominant disease that predisposes individuals to develop benign tumors of the hair follicle called fibrofolliculomas, lung cysts, spontaneous pneumothorax, and an increased risk for kidney tumors.
Any of these conditions that occurs in a family can indicate a diagnosis of Birt–Hogg–Dubé syndrome, though it is only confirmed by a genetic test for a mutation in the FLCN gene, which codes for the protein folliculin.

Pneumothorax

collapsed lungtension pneumothoraxpunctured lung
Folliculin also known as FLCN, Birt-Hogg-Dubé syndrome protein or FLCN_HUMAN is a protein that in humans is associated with Birt-Hogg-Dubé syndrome and hereditary spontaneous pneumothorax.
Birt–Hogg–Dubé syndrome is caused by mutations in the FLCN gene (located at chromosome 17p11.2), which encodes a protein named folliculin.

Protein

proteinsproteinaceousstructural proteins
Folliculin also known as FLCN, Birt-Hogg-Dubé syndrome protein or FLCN_HUMAN is a protein that in humans is associated with Birt-Hogg-Dubé syndrome and hereditary spontaneous pneumothorax.

Gene

genesnumber of genesgene sequence
It is encoded by the Folliculin (FLCN) gene (alias BHD, FLCL) that acts as a tumor suppressor gene.

Tumor suppressor

tumor suppressor genetumor suppressor genestumour suppressor gene
It is encoded by the Folliculin (FLCN) gene (alias BHD, FLCL) that acts as a tumor suppressor gene.

Exon

exonsexons.coding region
The FLCN gene consists of 14 exons.

Chromosome

chromosomeschromosomalChromosomal number
Cytogenetic Location: The FLCN gene is located on the short (p) arm of chromosome 17 at position 11.2.

Germline mutation

germlinegerm-line mutationsgermline mutations
Germline mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome (BHD), an autosomal dominant disease that predisposes individuals to develop benign tumors of the hair follicle called fibrofolliculomas, lung cysts, spontaneous pneumothorax, and an increased risk for kidney tumors.

Dominance (genetics)

autosomal recessiverecessiveautosomal dominant
Germline mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome (BHD), an autosomal dominant disease that predisposes individuals to develop benign tumors of the hair follicle called fibrofolliculomas, lung cysts, spontaneous pneumothorax, and an increased risk for kidney tumors.

Fibrofolliculoma

Germline mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome (BHD), an autosomal dominant disease that predisposes individuals to develop benign tumors of the hair follicle called fibrofolliculomas, lung cysts, spontaneous pneumothorax, and an increased risk for kidney tumors.

Kidney tumour

kidney tumorrenal tumorsolid renal mass
Germline mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome (BHD), an autosomal dominant disease that predisposes individuals to develop benign tumors of the hair follicle called fibrofolliculomas, lung cysts, spontaneous pneumothorax, and an increased risk for kidney tumors.

Germline

germ linegerm-linegerm lineage
FLCN mutations have also been found in the germline of patients with inherited spontaneous pneumothorax and no other clinical manifestations.

Risk assessment

risk assessmentsassessmentacceptable risk
In a risk assessment performed in affected and unaffected members of BHD families, the odds ratio for developing kidney tumors in a person affected with BHD was 6.9 times greater than his unaffected siblings.

Odds ratio

ORoddsodds ratios
In a risk assessment performed in affected and unaffected members of BHD families, the odds ratio for developing kidney tumors in a person affected with BHD was 6.9 times greater than his unaffected siblings.

Skin condition

Skin lesionskin diseasepustule
Birt-Hogg-Dubé syndrome was originally described by three Canadian physicians in a family in which 15 of 70 members over 3 generations exhibited a triad of dermatological lesions (fibrofolliculomas, trichodiscomas and acrochordons).

Trichodiscoma

Birt-Hogg-Dubé syndrome was originally described by three Canadian physicians in a family in which 15 of 70 members over 3 generations exhibited a triad of dermatological lesions (fibrofolliculomas, trichodiscomas and acrochordons).

Skin tag

skin tagsAcrochordonFibroepithelial polyp
Birt-Hogg-Dubé syndrome was originally described by three Canadian physicians in a family in which 15 of 70 members over 3 generations exhibited a triad of dermatological lesions (fibrofolliculomas, trichodiscomas and acrochordons).

Mendelian inheritance

Mendelian geneticsMendelianMendel's laws
Subsequently, cosegregation of kidney neoplasms with BHD cutaneous lesions was observed in 3 families with a family history of kidney tumors, suggesting that kidney tumors may be part of the BHD syndrome phenotype.

Neoplasm

tumortumorstumour
Subsequently, cosegregation of kidney neoplasms with BHD cutaneous lesions was observed in 3 families with a family history of kidney tumors, suggesting that kidney tumors may be part of the BHD syndrome phenotype.

Skin

cutaneousskin cellanimal skin
Subsequently, cosegregation of kidney neoplasms with BHD cutaneous lesions was observed in 3 families with a family history of kidney tumors, suggesting that kidney tumors may be part of the BHD syndrome phenotype.

Phenotype

phenotypicphenotypesphenotypically
Subsequently, cosegregation of kidney neoplasms with BHD cutaneous lesions was observed in 3 families with a family history of kidney tumors, suggesting that kidney tumors may be part of the BHD syndrome phenotype.

Locus (genetics)

locuslociq arm
In order to identify the genetic locus for BHD syndrome, genetic linkage analysis was performed in families recruited on the basis of BHD cutaneous lesions.

Genetic linkage

linkage analysislinkagelinked
In order to identify the genetic locus for BHD syndrome, genetic linkage analysis was performed in families recruited on the basis of BHD cutaneous lesions.

Mutation

mutationsgenetic mutationmutated
The majority of germline FLCN mutations identified in BHD patients are loss-of-function mutations including frameshift mutations (insertion/deletion), nonsense mutations, and splice site mutations that are predicted to inactivate the FLCN protein, although some missense mutations have been reported that exchange one nucleotide for another and consequently result in a different amino acid at the mutation site.

Frameshift mutation

frameshiftframeshift mutationsframeshifts
The majority of germline FLCN mutations identified in BHD patients are loss-of-function mutations including frameshift mutations (insertion/deletion), nonsense mutations, and splice site mutations that are predicted to inactivate the FLCN protein, although some missense mutations have been reported that exchange one nucleotide for another and consequently result in a different amino acid at the mutation site.