{"id":1675,"date":"2021-11-16T15:12:21","date_gmt":"2021-11-16T15:12:21","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1675"},"modified":"2026-02-23T01:11:26","modified_gmt":"2026-02-23T01:11:26","slug":"variable-skeletal-phenotypes-associated-with-biallelic-variants-in-prkg2","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/11\/16\/variable-skeletal-phenotypes-associated-with-biallelic-variants-in-prkg2\/","title":{"rendered":"Variable skeletal phenotypes associated with biallelic variants in PRKG2 (Contributed by Dr. Alistair Pagnamenta)"},"content":{"rendered":"<p>Although disruption of PRKG2 has been shown to cause skeletal anomalies and\/or dwarfism in rodents, cattle and dogs, only two human patients have been reported in the medical literature so far.\u00a0 In this study, four individuals with rare PRKG2 variants are described.\u00a0 In one family, the variant lies close to the end of the gene; in these subjects, detailed clinical\/radiological assessment help extend the phenotypic range associated with this condition to involve the spine (flattened vertebrae) but without significant shortening of the distal limb segments.\u00a0 Functional testing indicates that the variants affect the biological MAPK signalling pathway to a similar extent.\u00a0 Interestingly, one of the individuals had a more severe \u201cblended\u201d phenotype due to an additional COL1A1 mutation leading to multiple fractures. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/11\/14\/jmedgenet-2021-108027\">https:\/\/jmg.bmj.com\/content\/early\/2021\/11\/14\/jmedgenet-2021-108027<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/11\/16\/variable-skeletal-phenotypes-associated-with-biallelic-variants-in-prkg2\/prkg2_roll_small\/\" rel=\"attachment wp-att-1676\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1676\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/11\/PRKG2_roll_small-300x218.gif\" alt=\"\" width=\"300\" height=\"218\" \/><\/a><\/p>\n<p>[interactive version available at https:\/\/michelanglo.sgc.ox.ac.uk\/r\/PRKG2]<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Although disruption of PRKG2 has been shown to cause skeletal anomalies and\/or dwarfism in rodents, cattle and dogs, only two human patients have been reported in the medical literature so far.\u00a0 In this study, four individuals with rare PRKG2 variants are described.\u00a0 In one family, the variant lies close to the end of the gene; [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/11\/16\/variable-skeletal-phenotypes-associated-with-biallelic-variants-in-prkg2\/\">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-1675","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - 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