{"id":10160,"date":"2020-06-29T09:36:52","date_gmt":"2020-06-29T09:36:52","guid":{"rendered":"https:\/\/bgrssb.icgbio.ru\/2020\/2020\/06\/29\/genetic-causes-of-rare-forms-of-inherited-retinal-distrophy\/"},"modified":"2020-07-06T08:38:25","modified_gmt":"2020-07-06T08:38:25","slug":"genetic-causes-of-rare-forms-of-inherited-retinal-distrophy","status":"publish","type":"post","link":"https:\/\/bgrssb.icgbio.ru\/2020\/2020\/06\/29\/genetic-causes-of-rare-forms-of-inherited-retinal-distrophy\/","title":{"rendered":"Genetic Causes of Rare Forms of Inherited Retinal Distrophy"},"content":{"rendered":"<p>Tatyana Vasilyeva<sup>1<\/sup>, Andrey Marakhonov<sup>2<\/sup>, Vitaly Kadyshev<sup>3<\/sup>, Rena Zinchenko<sup>4<\/sup><br \/><sup>1<\/sup>Research Center for Medical Genetics, valyeva_debrie@mail.ru<br \/><sup>2<\/sup>Research Centre for Medical Genetics, marakhonov@generesearch.ru<br \/><sup>3<\/sup>Research Centre for Medical Genetics, vvh.kad@gmail.com<br \/><sup>4<\/sup>Research Centre for Medical Genetics, renazinchenko@mail.ru<\/p>\n<p><em>Retinal dystrophy is highly heterogeneous,\u00a0 this \u201cfrequent among rare\u201d inherited eye pathologies<\/em> <em>which result in blindness due to\u00a0<\/em><em>photoreceptors death<\/em><em>. Though some common forms of retinal dystrophy are associated with well-known and years ago established genes, hundreds of others are found and kept being revealed to be involved in its pathogenesis. We reported 6 solved using next generation sequencing technology (whole exom sequencing) cases of hereditary retinitis pigmentosa in an advanced stage of the disease progression which were found to be associated with pathogenic nucleotide sequence variants in known genes<\/em> <em>PRPF31<\/em>, <em>IFT140<\/em>, <em>RGS9, RPGR, RP1, and IMPG2. All 6 analyzed cases were\u00a0<\/em><em>characterized\u00a0<\/em><em>by a similar clinical picture of the deisease at\u00a0<\/em><em>its terminal stage.\u00a0<\/em><em>NGS analysis is the only method for DNA-diagnostics of genetically diverse and\u00a0<\/em><em>clinically\u00a0<\/em><em>homogeneous\u00a0<\/em><em>forms\u00a0<\/em><em>of\u00a0inherited <\/em><em>retinal dystrophy<\/em><em>.\u00a0<\/em><\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tatyana Vasilyeva1, Andrey Marakhonov2, Vitaly Kadyshev3, Rena Zinchenko41Research Center for Medical Genetics, valyeva_debrie@mail.ru2Research Centre for Medical Genetics, marakhonov@generesearch.ru3Research Centre for Medical Genetics, vvh.kad@gmail.com4Research Centre for Medical Genetics, renazinchenko@mail.ru Retinal dystrophy is highly heterogeneous,\u00a0 this \u201cfrequent among rare\u201d inherited eye pathologies which result in blindness due to\u00a0photoreceptors death. Though some common forms of retinal dystrophy are associated with well-known and years ago established genes, hundreds of others are found and kept being revealed to be involved in its pathogenesis. We reported 6 solved using next generation sequencing technology (whole exom sequencing) cases of hereditary retinitis pigmentosa in an advanced stage of the disease progression which were found to be associated with pathogenic nucleotide sequence variants in known genes PRPF31, IFT140, RGS9, RPGR, RP1, and IMPG2. All 6 analyzed cases were\u00a0characterized\u00a0by a similar clinical picture of the deisease at\u00a0its terminal stage.\u00a0NGS analysis is the only method for DNA-diagnostics of genetically diverse and\u00a0clinically\u00a0homogeneous\u00a0forms\u00a0of\u00a0inherited retinal dystrophy.\u00a0 &nbsp;<\/p>\n","protected":false},"author":9,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[2165],"tags":[1725,1727,1721,1723,1724,1722,1729,1726,1728],"_links":{"self":[{"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/posts\/10160"}],"collection":[{"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/users\/9"}],"replies":[{"embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/comments?post=10160"}],"version-history":[{"count":2,"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/posts\/10160\/revisions"}],"predecessor-version":[{"id":12137,"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/posts\/10160\/revisions\/12137"}],"wp:attachment":[{"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/media?parent=10160"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/categories?post=10160"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2020\/wp-json\/wp\/v2\/tags?post=10160"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}