{"id":1613,"date":"2021-03-06T15:18:18","date_gmt":"2021-03-06T15:18:18","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1613"},"modified":"2026-02-23T23:03:41","modified_gmt":"2026-02-23T23:03:41","slug":"refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/06\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\/","title":{"rendered":"Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study (Contributed by Dr. Sara Nuovo)"},"content":{"rendered":"<p>Pontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders profoundly impacting on child neurodevelopment. Genotype-phenotype associations are still limited, with negative consequences on prognosis and counselling. Here, we provide a comprehensive and systematic phenotypic assessment of 56 PCH patients with different genetic etiology. We identified three major PCH genes and investigated their association with individual phenotypic features as well as with phenotypic clusters based on the simultaneous presence of multiple features. Phenotypic variability associated with the commonest genetic causes of PCH is wider than previously thought, with marked overlap between <em>CASK<\/em> and <em>TSEN54<\/em>-associated disorders. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/03\/05\/jmedgenet-2020-107497\">https:\/\/jmg.bmj.com\/content\/early\/2021\/03\/05\/jmedgenet-2020-107497<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/06\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\/fig-1-4\/\" rel=\"attachment wp-att-1614\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1614\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/03\/Fig.1-182x300.jpg\" alt=\"\" width=\"182\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/03\/Fig.1-182x300.jpg 182w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/03\/Fig.1-622x1024.jpg 622w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/03\/Fig.1-768x1265.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/03\/Fig.1-640x1054.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/03\/Fig.1.jpg 829w\" sizes=\"auto, (max-width: 182px) 100vw, 182px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders profoundly impacting on child neurodevelopment. Genotype-phenotype associations are still limited, with negative consequences on prognosis and counselling. Here, we provide a comprehensive and systematic phenotypic assessment of 56 PCH patients with different genetic etiology. We identified three major PCH genes and investigated their association with [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/06\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\/\">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-1613","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study (Contributed by Dr. Sara Nuovo) - 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\/2021\/03\/06\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study (Contributed by Dr. Sara Nuovo) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Pontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders profoundly impacting on child neurodevelopment. Genotype-phenotype associations are still limited, with negative consequences on prognosis and counselling. Here, we provide a comprehensive and systematic phenotypic assessment of 56 PCH patients with different genetic etiology. We identified three major PCH genes and investigated their association with [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/06\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-03-06T15:18:18+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:03:41+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/03\/Fig.1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"829\" \/>\n\t<meta property=\"og:image:height\" content=\"1365\" \/>\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\\\/2021\\\/03\\\/06\\\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/06\\\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study (Contributed by Dr. Sara Nuovo)\",\"datePublished\":\"2021-03-06T15:18:18+00:00\",\"dateModified\":\"2026-02-23T23:03:41+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/06\\\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\\\/\"},\"wordCount\":123,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/06\\\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/03\\\/Fig.1-182x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/06\\\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/06\\\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/06\\\/refining-the-mutational-spectrum-and-gene-phenotype-correlates-in-pontocerebellar-hypoplasia-results-of-a-multicentric-study\\\/\",\"name\":\"Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study (Contributed by Dr. Sara Nuovo) - 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