{"id":1411,"date":"2020-02-06T16:24:10","date_gmt":"2020-02-06T16:24:10","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1411"},"modified":"2026-02-24T00:18:06","modified_gmt":"2026-02-24T00:18:06","slug":"cdk5rap2-primary-microcephaly-is-associated-with-hypothalamic-retinal-and-cochlear-developmental-defects","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/02\/06\/cdk5rap2-primary-microcephaly-is-associated-with-hypothalamic-retinal-and-cochlear-developmental-defects\/","title":{"rendered":"CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects (Contributed by Dr Sandrine Passemard)"},"content":{"rendered":"

Primary Microcephaly (PM) is a neurodevelopmental disorder characterized by a small brain size frequently associated with intellectual disability. CDK5RAP2 is a c<\/u>yclin-d<\/u>ependent k<\/u>inase r<\/u>egulatory subunit a<\/u>ssociated p<\/u>rotein whose deficiency causes a rare recessive isolated PM called MCPH3. In this article, Nasser and colleagues report patients carrying new bi-allelic CDK5RAP2<\/em> mutations and found that all patients displayed neurosensory defects in addition to PM, including microphthalmia, retinal pigmentation defects, hearing impairments associated with a unique cochlear malformation and hypothalamic anomalies reminiscent of holoprosencephaly. The author conclude that CDK5RAP2 not only governs brain size and that MCPH3 patients should be able to benefit from neurosensory follow-up consistently. (https:\/\/jmg.bmj.com\/content\/early\/2020\/02\/03\/jmedgenet-2019-106474<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Primary Microcephaly (PM) is a neurodevelopmental disorder characterized by a small brain size frequently associated with intellectual disability. CDK5RAP2 is a cyclin-dependent kinase regulatory subunit associated protein whose deficiency causes a rare recessive isolated PM called MCPH3. In this article, Nasser and colleagues report patients carrying new bi-allelic CDK5RAP2 mutations and found that all patients […]<\/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-1411","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nCDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects (Contributed by Dr Sandrine Passemard) - 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\/2020\/02\/06\/cdk5rap2-primary-microcephaly-is-associated-with-hypothalamic-retinal-and-cochlear-developmental-defects\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects (Contributed by Dr Sandrine Passemard) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Primary Microcephaly (PM) is a neurodevelopmental disorder characterized by a small brain size frequently associated with intellectual disability. 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