{"id":2077,"date":"2025-06-26T14:29:38","date_gmt":"2025-06-26T14:29:38","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2077"},"modified":"2026-02-22T01:06:00","modified_gmt":"2026-02-22T01:06:00","slug":"new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/","title":{"rendered":"New variants and genotype\u2013phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese)"},"content":{"rendered":"

This study investigates changes in the KIF5A gene, which plays a key role in moving materials within nerve cells. Mutations in this gene can lead to neurological diseases like hereditary spastic paraplegia (HSP), Charcot-Marie-Tooth disease (CMT2), and amyotrophic lateral sclerosis (ALS). By analyzing 390 Italian patients, the researchers found five individuals with harmful KIF5A mutations. Their symptoms and family histories helped clarify how different mutations affect the nervous system. This research improves understanding of how genetic differences in KIF5A lead to varied disease outcomes, which may help improve future diagnoses and guide treatment strategies. (https:\/\/jmg.bmj.com\/content\/early\/2025\/06\/25\/jmg-2025-110801<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

This study investigates changes in the KIF5A gene, which plays a key role in moving materials within nerve cells. Mutations in this gene can lead to neurological diseases like hereditary spastic paraplegia (HSP), Charcot-Marie-Tooth disease (CMT2), and amyotrophic lateral sclerosis (ALS). By analyzing 390 Italian patients, the researchers found five individuals with harmful KIF5A mutations. […]<\/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-2077","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nNew variants and genotype\u2013phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese) - 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\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"New variants and genotype\u2013phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"This study investigates changes in the KIF5A gene, which plays a key role in moving materials within nerve cells. Mutations in this gene can lead to neurological diseases like hereditary spastic paraplegia (HSP), Charcot-Marie-Tooth disease (CMT2), and amyotrophic lateral sclerosis (ALS). By analyzing 390 Italian patients, the researchers found five individuals with harmful KIF5A mutations. [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-06-26T14:29:38+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:06:00+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\\\/06\\\/26\\\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/06\\\/26\\\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"New variants and genotype\u2013phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese)\",\"datePublished\":\"2025-06-26T14:29:38+00:00\",\"dateModified\":\"2026-02-22T01:06:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/06\\\/26\\\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\\\/\"},\"wordCount\":126,\"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\\\/06\\\/26\\\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/06\\\/26\\\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/06\\\/26\\\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\\\/\",\"name\":\"New variants and genotype\u2013phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2025-06-26T14:29:38+00:00\",\"dateModified\":\"2026-02-22T01:06:00+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/06\\\/26\\\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/06\\\/26\\\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/06\\\/26\\\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"New variants and genotype\u2013phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"New variants and genotype\u2013phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/","og_locale":"en_US","og_type":"article","og_title":"New variants and genotype\u2013phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese) - JMG Contact blog","og_description":"This study investigates changes in the KIF5A gene, which plays a key role in moving materials within nerve cells. Mutations in this gene can lead to neurological diseases like hereditary spastic paraplegia (HSP), Charcot-Marie-Tooth disease (CMT2), and amyotrophic lateral sclerosis (ALS). By analyzing 390 Italian patients, the researchers found five individuals with harmful KIF5A mutations. [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/","og_site_name":"JMG Contact blog","article_published_time":"2025-06-26T14:29:38+00:00","article_modified_time":"2026-02-22T01:06:00+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"New variants and genotype\u2013phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese)","datePublished":"2025-06-26T14:29:38+00:00","dateModified":"2026-02-22T01:06:00+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/"},"wordCount":126,"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\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/","url":"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/","name":"New variants and genotype\u2013phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2025-06-26T14:29:38+00:00","dateModified":"2026-02-22T01:06:00+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/26\/new-variants-and-genotype-phenotype-correlation-in-kif5a-mutation-the-contribution-of-a-large-italian-cohort\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"New variants and genotype\u2013phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort (Contributed by Dr. Rosangelka Ferese)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/2077","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=2077"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/2077\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=2077"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=2077"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=2077"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}