Birt Hogg Dube Syndrome is primarily caused by mutations in which gene?

Birt Hogg Dube Syndrome (BHDS) is primarily associated with mutations in the FLCN gene. This genetic condition is characterized by the development of skin tumors known as fibrofolliculomas, lung lesions, and an increased risk of renal tumors. The FLCN gene encodes a protein called folliculin, which plays a critical role in regulating cellular functions and maintaining normal cellular metabolism and growth.

Mutations in the FLCN gene disrupt these processes, leading to the clinical manifestations of BHDS. Correct diagnosis and management of the syndrome depend on understanding its genetic basis, making identification of the responsible gene crucial for genetic counseling and patient care.

The other genes listed—CDKN2A, STK11, and MLH1—are associated with different genetic syndromes. For instance, CDKN2A is primarily linked to familial melanoma, STK11 is associated with Peutz-Jeghers syndrome, and MLH1 is involved in Lynch syndrome (hereditary nonpolyposis colorectal cancer). Each of these genes has distinct pathways and clinical presentations that differentiate them from the implications of mutations in the FLCN gene. Understanding these distinctions is essential for accurate diagnosis and appropriate management strategies in patients.