{"id":1925,"date":"2024-01-18T14:26:37","date_gmt":"2024-01-18T14:26:37","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1925"},"modified":"2026-02-22T23:27:26","modified_gmt":"2026-02-22T23:27:26","slug":"grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/01\/18\/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort\/","title":{"rendered":"GRN mutation spectrum and genotype\u2013phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort (Contributed by Liling Dong)"},"content":{"rendered":"<p>Heterozygous mutations in the GRN, especially of the loss of function type, are causative of Frontotemporal dementia (FTD). However, several GRN variants can be found in other neurodegenerative diseases, such as Alzheimer\u2019s disease (AD) and Parkinson\u2019s disease. We reported 14 Chinese subjects with the rare variants of GRN (NM_002087.3). They presented with behavioral variant of FTD (n=2), primary progressive aphasia (n=4), AD (n=6), and mixed dementia (n=2). Six novel variants were found, including one likely pathogenic variant (p.W49X (c.146_147insA)) and five variants of uncertain significance (p.S226G (c.676A&gt;G), p.M152I (c.456G&gt;A), p.A91E (c.272C&gt;A), p.G79E (c.236G&gt;A), p.A303S (c. 907G&gt;T)). These help us to better comprehend the genetic basis and therapeutic target of neurodegenerative diseases. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/01\/16\/jmg-2023-109499\">https:\/\/jmg.bmj.com\/content\/early\/2024\/01\/16\/jmg-2023-109499<\/a> )<\/p>\n<p>&nbsp;<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Heterozygous mutations in the GRN, especially of the loss of function type, are causative of Frontotemporal dementia (FTD). However, several GRN variants can be found in other neurodegenerative diseases, such as Alzheimer\u2019s disease (AD) and Parkinson\u2019s disease. We reported 14 Chinese subjects with the rare variants of GRN (NM_002087.3). They presented with behavioral variant of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/01\/18\/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort\/\">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-1925","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>GRN mutation spectrum and genotype\u2013phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort (Contributed by Liling Dong) - 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\/2024\/01\/18\/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"GRN mutation spectrum and genotype\u2013phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort (Contributed by Liling Dong) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Heterozygous mutations in the GRN, especially of the loss of function type, are causative of Frontotemporal dementia (FTD). However, several GRN variants can be found in other neurodegenerative diseases, such as Alzheimer\u2019s disease (AD) and Parkinson\u2019s disease. We reported 14 Chinese subjects with the rare variants of GRN (NM_002087.3). They presented with behavioral variant of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2024\/01\/18\/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2024-01-18T14:26:37+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:27:26+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\\\/2024\\\/01\\\/18\\\/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/18\\\/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"GRN mutation spectrum and genotype\u2013phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort (Contributed by Liling Dong)\",\"datePublished\":\"2024-01-18T14:26:37+00:00\",\"dateModified\":\"2026-02-22T23:27:26+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/18\\\/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort\\\/\"},\"wordCount\":168,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/18\\\/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/18\\\/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/01\\\/18\\\/grn-mutation-spectrum-and-genotype-phenotype-correlation-in-chinese-dementia-patients-data-from-pumch-dementia-cohort\\\/\",\"name\":\"GRN mutation spectrum and genotype\u2013phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort (Contributed by Liling Dong) - 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