{"id":1868,"date":"2023-07-20T14:32:16","date_gmt":"2023-07-20T14:32:16","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1868"},"modified":"2026-02-23T00:01:35","modified_gmt":"2026-02-23T00:01:35","slug":"clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/20\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\/","title":{"rendered":"Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt\u2013Hogg\u2013Dub\u00e9 syndrome (Contributed by Professor Jie-Wei Luo)"},"content":{"rendered":"<p>Hereditary renal cell carcinoma (RCC) accounts for 5% of renal cancers and is mostly autosomal dominant inheritance. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and Birt\u2013Hogg\u2013Dube (BHD) syndromes are caused by mutations in the fumarate hydratase (FH) and folliculin (FLCN) genes, respectively. Over 200 families with HLRCC and over 600 families with BHD have been reported in the literature, and their RCC penetrance is approximately 30%. Two variants FLCN p.Arg527Glnfs*75 and FH p.Gly397Arg were detected in a rare family with concurrent HLRCC and BHD, and two carriers with both variants were found to have FH-deficient papillary RCC. The phenotype-genetic association analysis and cell function identification indicates that simultaneously carrying the responsible mutations in two tumor suppressor genes increases the penetrance of renal cancer. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/07\/19\/jmg-2023-109328\">https:\/\/jmg.bmj.com\/content\/early\/2023\/07\/19\/jmg-2023-109328<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/20\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\/attachment\/11\/\" rel=\"attachment wp-att-1869\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1869\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/11-300x203.jpg\" alt=\"\" width=\"300\" height=\"203\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/11-300x203.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/11-1024x692.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/11-768x519.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/11-1536x1038.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/11-2048x1385.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/11-640x433.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>The Kidney-related Rare Diseases Research Group in Fujian Provincial Hospital<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Hereditary renal cell carcinoma (RCC) accounts for 5% of renal cancers and is mostly autosomal dominant inheritance. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and Birt\u2013Hogg\u2013Dube (BHD) syndromes are caused by mutations in the fumarate hydratase (FH) and folliculin (FLCN) genes, respectively. Over 200 families with HLRCC and over 600 families with BHD have been [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/20\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1868","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt\u2013Hogg\u2013Dub\u00e9 syndrome (Contributed by Professor Jie-Wei Luo) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/20\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt\u2013Hogg\u2013Dub\u00e9 syndrome (Contributed by Professor Jie-Wei Luo) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Hereditary renal cell carcinoma (RCC) accounts for 5% of renal cancers and is mostly autosomal dominant inheritance. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and Birt\u2013Hogg\u2013Dube (BHD) syndromes are caused by mutations in the fumarate hydratase (FH) and folliculin (FLCN) genes, respectively. Over 200 families with HLRCC and over 600 families with BHD have been [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/20\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-07-20T14:32:16+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:01:35+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/07\/11-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1731\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/20\\\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/20\\\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt\u2013Hogg\u2013Dub\u00e9 syndrome (Contributed by Professor Jie-Wei Luo)\",\"datePublished\":\"2023-07-20T14:32:16+00:00\",\"dateModified\":\"2026-02-23T00:01:35+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/20\\\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\\\/\"},\"wordCount\":171,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/20\\\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/07\\\/11-300x203.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/20\\\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/20\\\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/20\\\/clinical-phenotype-and-genetic-function-analysis-of-a-rare-family-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-complicated-with-birt-hogg-dube-syndrome\\\/\",\"name\":\"Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt\u2013Hogg\u2013Dub\u00e9 syndrome (Contributed by Professor Jie-Wei Luo) - 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Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and Birt\u2013Hogg\u2013Dube (BHD) syndromes are caused by mutations in the fumarate hydratase (FH) and folliculin (FLCN) genes, respectively. 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