Genetic and Clinical Profiling of Korean Patients with Birt–Hogg–Dubé Syndrome

Abstract

however, its diagnosis requires satisfaction of one major or two minor diagnostic criteria as suggested by the European Birt-Hogg-Dubé consortium [1], and it predominantly results from mutations in the FLCN gene on chromosome 17p11.2, encoding folliculin, a tumor suppressor protein [2]. The estimated global prevalence of BHDS is 1.86 (95% confidence interval, 1.16-3.00) per million, with an unknown prevalence in Asia. BHDS can manifest at any age, typically at 40 [3]. Differences in incidence between the sexes remain debatable [4], as do genotype-phenotype correlations [3, 5]. BHDS exhibits phenotypic variability, with 80% of skin lesions [3, 6, 7], 80% of pulmonary cysts [3], 24-35% of pneumothorax [3, 8, 9], and 19-40% of renal cancer [3, 7, 10, 11] in Caucasian patients. Asian patients show slight differences, with fewer instances of skin lesions and Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disorder characterized by fibrofolliculomas, renal cancer, multiple pulmonary cysts, and spontaneous pneumothoraces [1];