{"id":647,"date":"2014-04-04T20:56:16","date_gmt":"2014-04-04T20:56:16","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=647"},"modified":"2026-02-25T19:48:05","modified_gmt":"2026-02-25T19:48:05","slug":"mutations-in-the-enzyme-glutathione-peroxidase-4-cause-sedaghatian-type-spondylometaphyseal-dysplasia","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/04\/mutations-in-the-enzyme-glutathione-peroxidase-4-cause-sedaghatian-type-spondylometaphyseal-dysplasia\/","title":{"rendered":"Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia (Contributed by Dr. Kym Boycott)"},"content":{"rendered":"

Sedaghatian-type spondylometaphyseal dysplasia is a rare syndrome characterized by abnormal bone development with shortened limbs and flattened spine.\u00a0 Affected children also have heart rhythm defects and brain abnormalities such that they pass away shortly after birth.\u00a0 Eighteen infants affected with this rare disease have been reported worldwide.\u00a0 We studied two families and identified loss-of-function mutations in the gene GPX4, a member of the glutathione peroxidase family of antioxidant defense enzymes that protects cells against cell death and lipid peroxidation.\u00a0 Our findings highlight the importance of proper functioning of this enzyme in development of the cardiac, nervous and skeletal systems. (http:\/\/jmg.bmj.com\/content\/early\/2014\/04\/04\/jmedgenet-2013-102218<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Sedaghatian-type spondylometaphyseal dysplasia is a rare syndrome characterized by abnormal bone development with shortened limbs and flattened spine.\u00a0 Affected children also have heart rhythm defects and brain abnormalities such that they pass away shortly after birth.\u00a0 Eighteen infants affected with this rare disease have been reported worldwide.\u00a0 We studied two families and identified loss-of-function 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-647","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nMutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia (Contributed by Dr. Kym Boycott) - 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\/2014\/04\/04\/mutations-in-the-enzyme-glutathione-peroxidase-4-cause-sedaghatian-type-spondylometaphyseal-dysplasia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia (Contributed by Dr. Kym Boycott) - 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