Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
October 2017
in “
Genetic testing and molecular biomarkers
”
TLDR A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
The study reported a novel in-frame deletion mutation in the FLCN gene, c.932_933delCT (P311Rfs*78), in a 44-year-old woman with primary spontaneous pneumothorax (PSP) and her unaffected father, suggesting a link to Birt-Hogg-Dube syndrome (BHDS). The findings emphasized the importance of evaluating patients with PSP for FLCN mutations and recommended that mutation carriers be screened for kidney and colon tumors. The study aimed to raise awareness of the potential genetic basis of PSP and its association with BHDS.
