Birt-Hogg

-
Dube
Syndrome
Discovery of BHD

- first case reported in 1925 by Burnier & Rejeski

- report described 56 year old woman with
many small bumps
- Birt, Hogg, & Dube officially named condition as
genetic disorder in 1975
- first to study a family with the condition
Inheritance pattern

- autosomal dominant
- only occurs in 1/200,000 people

pedigree of a family affected by BHD

http://www.nature.com/nrurol/journal/v12/n10/fig_tab/nrurol.2015.206_F4.html
The FLCN gene and BHD

FLCN gene
- produces follucin
- suppresses tumor growth
- 17p11.2

location of FLCN on chromosome 17

https://ghr.nlm.nih.gov/gene/FLCN/location.png
Mutations in FLCN gene that cause BHD

- deletion/duplication of C at bp 1285 of
exon 11 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2526433/
-
-

http://www.nature.com/nrurol/journal/v12/n10/carousel/nrurol.2015.206-f5.jpg
 objective 3.22
FLCN’s role in the AMPK pathway
 objective 3.19

“
Knowing the role FLCN plays in
the AMPK pathway, what
effect can we assume a
mutation in the FLCN gene will
cause?
Symptoms https://en.wikipedia.org/wiki/Birt%E2%80%93Hogg%E2%80%93
Dub%C3%A9_syndrome

- fibrofolliculoma
- lung cysts
- pneumothorax
- kidney cysts
- kidney cancer fibrofolliculoma
- symptoms appear
after age of 20

kidney cysts
pneumothorax
http://www.brighamandwomens.o
https://www.bhdsyndrome.org/wp-content/uploads rg/Departments_and_services/su http://learningradiology.com/caseofwee
/2011/03/kidney-text.png rgery/thoracic-surgery/images/m k/caseoftheweekpix2012%20487/cow5
 https://skinsurgeryclinic.co.uk/wp-content/uploads/2016/

Treatment 07/skin-lesion-removal-leeds-harrogate-pj-before-after.j
pg

laser ablation
- laser ablation
- relapse is highly probable
- pleurectomy & pleurodosis
- partial/radical nephrectomy
- ideal for BHD patients, as they have
numerous tumors
-

nephrectomy pleurectomy
http://www.clevelandclinicmeded.com/medicalpubs/di https://healtheappointments.com/wp-co
seasemanagement/nephrology/renal-cell-carcinoma/i ntent/uploads/2016/11/m_Moore-ch001-
Geographic/evolutionary pattern?

- BHD is extremely rare

- vague estimate of 400 affected
families in the world
- underdiagnosed
- fibrofolliculomas rarely appear on
dark skinned people
Works Cited

Hartz, Patricia A. "Folliculin." OMIM. N.p., 19 Oct. 2016. Web. 28 Feb. 2017.
European Bioinformatics InstituteProtein Information ResourceSIB Swiss Institute of
Bioinformatics. "Folliculin." FLCN - Folliculin - Homo Sapiens (Human) - FLCN Gene
& Protein. Uniprot, 15 Feb. 2017. Web. 01 Mar. 2017.
Database, GeneCards Human Gene. "RPS6KB1 Gene(Protein Coding)." RPS6KB1.
Genecards, n.d. Web. 01 Mar. 2017.
"Birt-Hogg-Dubé Syndrome." Birt Hogg Dube Syndrome. BHD Foundation, n.d. Web. 01
Mar. 2017.
Toro, Jorge R. "Birt-Hogg-Dubé Syndrome." GeneReviews® [Internet]. U.S. National Library
of Medicine, 07 Aug. 2014. Web. 01 Mar. 2017.
"DermNet New Zealand." Birt-Hogg-Dubé Syndrome | DermNet New Zealand. DermNet, n.d.
Web. 01 Mar. 2017.
Cancer.Net Authors. "Birt-Hogg-Dubé Syndrome." Cancer.Net. N.p., 26 Jan. 2017. Web. 01
Mar. 2017.
"What Is BHD – Birt-Hogg-Dubé Syndrome." Birt-Hogg-Dubé Syndrome. N.p., n.d. Web. 28
Feb. 2017.
"Primary Spontaneous Pneumothorax - Genetics Home Reference." U.S. National Library of
Medicine. National Institutes of Health, n.d. Web. 28 Feb. 2017.
"What Are the Key Statistics About Kidney Cancer?" American Cancer Society. American
Cancer Society, n.d. Web. 28 Feb. 2017.
Emidicine Authors. "Birt-Hogg-Dube Syndrome." Background, Pathophysiology,
Epidemiology. Emidicine, 08 Feb. 2017. Web. 28 Feb. 2017.
"Birt Hogg Dube Syndrome." National Center for Biotechnology Information. U.S. National
Library of Medicine, n.d. Web. 28 Feb. 2017.
"Renal Cancer." Orphanet: Neurofibromatosis Type 6. Orphanet, n.d. Web. 28 Feb. 2017.