Birt-Hogg-Dube syndrome
From SNPedia
Birt-Hogg-Dube syndrome is a rare autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. Fibrofolliculomas are the most common manifestation, found on the face and upper trunk in over 80% of people with BHD over the age of 40. Pulmonary cysts are equally common (84%), but only 24% of people with BHD eventually experience a collapsed lung. Kidney tumors, both cancerous and benign, occur in 14–34% of people with BHD. Wikipedia
Mutations in the FLCN gene on chromosome 17 cause Birt-Hogg-Dube syndrome; over 100 (rare) mutations are known, with the most frequent in one (Japanese) population being [PMID 27220747]:
- rs80338682, c.1285dupC
- rs80338683, c.1285delC
- c.1347_1353dupCCACCCT
- c.1533_1536delGATG
