Related Experiment Video
Updated: Mar 16, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Birt-Hogg-Dubé Syndrome
Nishant Gupta1, Bernie Y Sunwoo2, Robert M Kotloff3
1Division of Pulmonary, Critical Care and Sleep Medicine, University of Cincinnati, 231 Albert Sabin Way, MSB Room 6053, ML 0564, Cincinnati, OH 45267, USA.
Abstract:
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the Folliculin gene and is characterized by the formation of fibrofolliculomas, early onset renal cancers, pulmonary cysts, and spontaneous pneumothoraces. The exact pathogenesis of tumor and lung cyst formation in BHD remains unclear. There is great phenotypic variability in the clinical features of BHD, and patients can present with any combination of skin, pulmonary, or renal findings. More than 80% of adult patients with BHD have pulmonary cysts on high-resolution computed tomography scan of the chest.
Related Concept Videos
01:11Genetic Lingo
01:35Pedigree Analysis
01:30Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
01:27Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:49Probability Laws
01:33Pleiotropy