Genetic testing for Usher syndrome
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive manner and is caused by variations in the ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, US...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2017-10-01
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| Series: | The EuroBiotech Journal |
| Online Access: | https://doi.org/10.24190/ISSN2564-615X/2017/S1.34 |
| _version_ | 1819090069183528960 |
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| author | Abeshi Andi Bruson Alice Beccari Tommaso Dundar Munis Colombo Leonardo Bertelli Matteo |
| author_facet | Abeshi Andi Bruson Alice Beccari Tommaso Dundar Munis Colombo Leonardo Bertelli Matteo |
| author_sort | Abeshi Andi |
| collection | DOAJ |
| description | We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive manner and is caused by variations in the ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN genes. Prevalence is estimated to be 1:30,000. Clinical diagnosis is based on audiogram, vestibular tests, visual acuity test, fundus examination, color test, optical coherence tomography and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials. |
| first_indexed | 2024-12-21T22:17:58Z |
| format | Article |
| id | doaj.art-f13efac1ffd34a9bbe62c7a1583e612f |
| institution | Directory Open Access Journal |
| issn | 2564-615X |
| language | English |
| last_indexed | 2024-12-21T22:17:58Z |
| publishDate | 2017-10-01 |
| publisher | Sciendo |
| record_format | Article |
| series | The EuroBiotech Journal |
| spelling | doaj.art-f13efac1ffd34a9bbe62c7a1583e612f2022-12-21T18:48:24ZengSciendoThe EuroBiotech Journal2564-615X2017-10-011s110811010.24190/ISSN2564-615X/2017/S1.34Genetic testing for Usher syndromeAbeshi Andi0Bruson Alice1Beccari Tommaso2Dundar Munis3Colombo Leonardo4Bertelli Matteo5MAGI Balkans, Tirana, AlbaniaMAGI’S Lab, Rovereto, ItalyDepartment of Pharmaceutical Sciences, University of Perugia, Perugia, ItalyDepartment of Medical Genetics, Erciyes University Medical School, Kayseri, TurkeyDepartment of Ophthalmology, ASST Santi Paolo e Carlo, University of Milan, Milan, ItalyMAGI’S Lab, Rovereto, ItalyWe studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive manner and is caused by variations in the ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN genes. Prevalence is estimated to be 1:30,000. Clinical diagnosis is based on audiogram, vestibular tests, visual acuity test, fundus examination, color test, optical coherence tomography and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.https://doi.org/10.24190/ISSN2564-615X/2017/S1.34 |
| spellingShingle | Abeshi Andi Bruson Alice Beccari Tommaso Dundar Munis Colombo Leonardo Bertelli Matteo Genetic testing for Usher syndrome The EuroBiotech Journal |
| title | Genetic testing for Usher syndrome |
| title_full | Genetic testing for Usher syndrome |
| title_fullStr | Genetic testing for Usher syndrome |
| title_full_unstemmed | Genetic testing for Usher syndrome |
| title_short | Genetic testing for Usher syndrome |
| title_sort | genetic testing for usher syndrome |
| url | https://doi.org/10.24190/ISSN2564-615X/2017/S1.34 |
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