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We identified a hitherto unreported pathogenic <jats:italic>FLCN<\/jats:italic> frameshift deletion c.563delT (p.Phe188Serfs*35) in a family of a 46-year-old woman presented with macrohematuria due to bilateral chromophobe renal carcinomas. A heritable renal cancer was suspected due to the bilaterality of the tumour and as the father of this woman had suffered from renal cancer. Initially, however, BHD was overlooked by the medical team despite the highly suggestive clinical presentation. We assume that BHD is underdiagnosed, at least partially, due to low awareness of this variable condition and to insufficient use of appropriate genetic testing. Our study indicates that BHD and <jats:italic>FLCN<\/jats:italic> testing should be routinely considered in patients with positive family or personal history of renal tumours. In addition, we demonstrate how patients and their families can play a driving role in initiating genetic diagnosis, presymptomatic testing of at-risk relatives, targeted disease management, and genetic counselling of rare diseases such as BHD.\n<\/jats:p>","DOI":"10.1007\/s10689-015-9837-5","type":"journal-article","created":{"date-parts":[[2015,9,5]],"date-time":"2015-09-05T09:48:00Z","timestamp":1441446480000},"page":"127-132","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Birt\u2013Hogg\u2013Dub\u00e9 syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas"],"prefix":"10.1007","volume":"15","author":[{"given":"Ernst","family":"N\u00e4f","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominik","family":"Laubscher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helmut","family":"Hopfer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Streit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabor","family":"Matyas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,9,5]]},"reference":[{"key":"9837_CR1","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.1001\/archderm.1977.01640120042005","volume":"113","author":"AR Birt","year":"1977","unstructured":"Birt AR, Hogg GR, Dube WJ (1977) Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. 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