A rare occurrence of a hereditary Birt-Hogg-Dubé syndrome: A case report

Figure 10  The American College of Medical Genetics and Genomics rating considered suggested the presence of PVS1 and PM2 by taking into consideration the suspected diseases. A: Genetic test revealed a heterozygous nucleotide variation (red arrow) of c.1285_1286insC in germline mutations in the folliculin gene of the patient; B: The patient’s mother; C: The patient’s second maternal aunt; D: No genetic variation (red arrow) was detected in her elder aunt; E: Her elder uncle; F: Her second uncle; G: Her grandmother.