{"id":2087,"date":"2025-07-18T15:03:35","date_gmt":"2025-07-18T15:03:35","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2087"},"modified":"2026-02-22T01:03:06","modified_gmt":"2026-02-22T01:03:06","slug":"biallelic-pathogenic-tulp3-variants-presenting-as-neonatal-cholestasis-liver-fibrosis-and-neurological-manifestations-2","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/07\/18\/biallelic-pathogenic-tulp3-variants-presenting-as-neonatal-cholestasis-liver-fibrosis-and-neurological-manifestations-2\/","title":{"rendered":"Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations (Contributed by Jia-Qi Li)"},"content":{"rendered":"

Two Chinese children, who showed liver and neurological involvement prior to adolescence, were found to have compound heterozygous (a null and a missense) variants of TULP3. It was demonstrated that both missense variants in TULP3 could disrupt ciliogenesis or cilia function by eliminating the normal expression or localization of ciliary proteins. One patient presented with neonatal cholestasis, which quickly progressed to liver fibrosis, and underwent a liver transplantation at the age of 2. In this research, we discovered a previously unrecognized connection between TULP3 variants and neonatal cholestasis, could open new avenues for early diagnosis in liver – related disorders. Additionally, we disclosed a potential link between TULP3 deficiency and neurological manifestations that warrants further investigation. (https:\/\/jmg.bmj.com\/content\/early\/2025\/06\/27\/jmg-2025-110658<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Two Chinese children, who showed liver and neurological involvement prior to adolescence, were found to have compound heterozygous (a null and a missense) variants of TULP3. It was demonstrated that both missense variants in TULP3 could disrupt ciliogenesis or cilia function by eliminating the normal expression or localization of ciliary proteins. One patient presented with […]<\/p>\n

Read More…<\/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-2087","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nBiallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations (Contributed by Jia-Qi Li) - 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\/2025\/07\/18\/biallelic-pathogenic-tulp3-variants-presenting-as-neonatal-cholestasis-liver-fibrosis-and-neurological-manifestations-2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations (Contributed by Jia-Qi Li) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Two Chinese children, who showed liver and neurological involvement prior to adolescence, were found to have compound heterozygous (a null and a missense) variants of TULP3. It was demonstrated that both missense variants in TULP3 could disrupt ciliogenesis or cilia function by eliminating the normal expression or localization of ciliary proteins. One patient presented with [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/07\/18\/biallelic-pathogenic-tulp3-variants-presenting-as-neonatal-cholestasis-liver-fibrosis-and-neurological-manifestations-2\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-07-18T15:03:35+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:03:06+00:00\" \/>\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\\\/2025\\\/07\\\/18\\\/biallelic-pathogenic-tulp3-variants-presenting-as-neonatal-cholestasis-liver-fibrosis-and-neurological-manifestations-2\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/07\\\/18\\\/biallelic-pathogenic-tulp3-variants-presenting-as-neonatal-cholestasis-liver-fibrosis-and-neurological-manifestations-2\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations (Contributed by Jia-Qi Li)\",\"datePublished\":\"2025-07-18T15:03:35+00:00\",\"dateModified\":\"2026-02-22T01:03:06+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/07\\\/18\\\/biallelic-pathogenic-tulp3-variants-presenting-as-neonatal-cholestasis-liver-fibrosis-and-neurological-manifestations-2\\\/\"},\"wordCount\":140,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/07\\\/18\\\/biallelic-pathogenic-tulp3-variants-presenting-as-neonatal-cholestasis-liver-fibrosis-and-neurological-manifestations-2\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/07\\\/18\\\/biallelic-pathogenic-tulp3-variants-presenting-as-neonatal-cholestasis-liver-fibrosis-and-neurological-manifestations-2\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/07\\\/18\\\/biallelic-pathogenic-tulp3-variants-presenting-as-neonatal-cholestasis-liver-fibrosis-and-neurological-manifestations-2\\\/\",\"name\":\"Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations (Contributed by Jia-Qi Li) - 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