{"id":650,"date":"2014-04-10T19:23:22","date_gmt":"2014-04-10T19:23:22","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=650"},"modified":"2026-02-25T19:47:03","modified_gmt":"2026-02-25T19:47:03","slug":"a-familial-disorder-of-altered-dna-methylation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/10\/a-familial-disorder-of-altered-dna-methylation\/","title":{"rendered":"A familial disorder of altered DNA-methylation (Contributed by Dr. med. Almuth Caliebe)"},"content":{"rendered":"

Genomic imprinting is an epigenetic process leading to parent-of-origin specific DNA methylation and gene expression. There are several recognizable phenotypes caused by DNA-methylation changes at disease specific imprinted loci. In the recent years it became obvious that some patients exhibit changes of DNA-methylation at multiple imprinted loci. We report a family with three offspring who were all affected by a widespread disorder of DNA methylation not only of maternally and paternally imprinted genes but also of a considerable number of loci not known to be associated with parent-of-origin specific DNA-methylation. This family suggests the existence of a hitherto unrecognised disorder of genomic imprinting. (http:\/\/jmg.bmj.com\/content\/early\/2014\/04\/10\/jmedgenet-2013-102149<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Genomic imprinting is an epigenetic process leading to parent-of-origin specific DNA methylation and gene expression. There are several recognizable phenotypes caused by DNA-methylation changes at disease specific imprinted loci. In the recent years it became obvious that some patients exhibit changes of DNA-methylation at multiple imprinted loci. We report a family with three offspring who […]<\/p>\n

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