Birt-Hogg-Dubé syndrome: report of a new mutation.
Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis caused by germline mutations in the folliculin gene and characterized by facial papules, pulmonary cysts, kidney tumours and recurrent pneumothoraces. Several distinct mutations in the folliculin gene resulting in a truncated protein have been described. The present report describes a new mutation, which has not been reported in individuals with Birt-Hogg-Dubé syndrome but is of a type predicted to cause disease.
Regina Qu'Apelle Health Region, Regina, Saskatchewan S4P OW5, Canada. habib31@sasktel.net
Habib U
HU
Rehman
D058249:Birt-Hogg-Dube Syndrome / Q000235:genetics*; D018389:Codon, Nonsense; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D018389:Codon, Nonsense; C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins