Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
Abstract Background Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive peripheral vision loss and total blindness in the late stages. The dise...
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| Format: | Article |
| Language: | English |
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BMC
2018-12-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-018-0965-5 |
| _version_ | 1819265470209982464 |
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| author | Anna Skorczyk-Werner Anna Wawrocka Natalia Kochalska Maciej Robert Krawczynski |
| author_facet | Anna Skorczyk-Werner Anna Wawrocka Natalia Kochalska Maciej Robert Krawczynski |
| author_sort | Anna Skorczyk-Werner |
| collection | DOAJ |
| description | Abstract Background Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive peripheral vision loss and total blindness in the late stages. The disease is caused by mutations in the CHM gene encoding Rab Escort Protein 1 (REP-1). The aim of the study was to identify the molecular basis of choroideremia in five families of Polish origin. Methods Six male patients from five unrelated families of Polish ethnicity, who were clinically diagnosed with choroideremia, were examined in this study. An ophthalmologic examination performed in all the probands included: best-corrected visual acuity, slit-lamp examination, funduscopy, fluorescein angiography and perimetry. The entire coding region encompassing 15 exons and the flanking intronic sequences of the CHM gene were amplified with PCR and directly sequenced in all the patients. Results Five variants in the CHM gene were identified in the five families examined. Two of the variants were new: c.1175dupT and c.83C > G, while three had been previously reported. Conclusions This study provides the first molecular genetic characteristics of patients with choroideremia from the previously unexplored Polish population. |
| first_indexed | 2024-12-23T20:45:53Z |
| format | Article |
| id | doaj.art-c2106545b8a344c988059b0b3b693dd5 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-23T20:45:53Z |
| publishDate | 2018-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-c2106545b8a344c988059b0b3b693dd52022-12-21T17:31:47ZengBMCOrphanet Journal of Rare Diseases1750-11722018-12-011311710.1186/s13023-018-0965-5Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatmentAnna Skorczyk-Werner0Anna Wawrocka1Natalia Kochalska2Maciej Robert Krawczynski3Department of Medical Genetics, Poznan University of Medical SciencesDepartment of Medical Genetics, Poznan University of Medical SciencesCenters for Medical Genetics GENESISDepartment of Medical Genetics, Poznan University of Medical SciencesAbstract Background Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive peripheral vision loss and total blindness in the late stages. The disease is caused by mutations in the CHM gene encoding Rab Escort Protein 1 (REP-1). The aim of the study was to identify the molecular basis of choroideremia in five families of Polish origin. Methods Six male patients from five unrelated families of Polish ethnicity, who were clinically diagnosed with choroideremia, were examined in this study. An ophthalmologic examination performed in all the probands included: best-corrected visual acuity, slit-lamp examination, funduscopy, fluorescein angiography and perimetry. The entire coding region encompassing 15 exons and the flanking intronic sequences of the CHM gene were amplified with PCR and directly sequenced in all the patients. Results Five variants in the CHM gene were identified in the five families examined. Two of the variants were new: c.1175dupT and c.83C > G, while three had been previously reported. Conclusions This study provides the first molecular genetic characteristics of patients with choroideremia from the previously unexplored Polish population.http://link.springer.com/article/10.1186/s13023-018-0965-5Choroideremia (CHM)CHM geneRab escort protein 1 (REP-1)New mutations |
| spellingShingle | Anna Skorczyk-Werner Anna Wawrocka Natalia Kochalska Maciej Robert Krawczynski Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment Orphanet Journal of Rare Diseases Choroideremia (CHM) CHM gene Rab escort protein 1 (REP-1) New mutations |
| title | Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment |
| title_full | Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment |
| title_fullStr | Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment |
| title_full_unstemmed | Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment |
| title_short | Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment |
| title_sort | novel chm mutations in polish patients with choroideremia an orphan disease with close perspective of treatment |
| topic | Choroideremia (CHM) CHM gene Rab escort protein 1 (REP-1) New mutations |
| url | http://link.springer.com/article/10.1186/s13023-018-0965-5 |
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