Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were assessed for pathogenicity. If no causative variants were detected and when the patient consented, the entire exome data was analyzed. A total of 266 Dutch patients with different types of inherited eye disorders, including inherited retinal dystrophie... Mehr ...
| Verfasser: |
Haer-Wigman, Lonneke
van Zelst-Stams, Wendy A. G.
Pfundt, Rolph
van den Born, L. Ingeborgh
Klaver, Caroline C. W.
Verheij, Joke B. G. M.
Hoyng, Carel B.
Breuning, Martijn H.
Boon, Camiel J. F.
Kievit, Anneke J.
Verhoeven, Virginie J. M.
Pott, Jan W. R.
Sallevelt, Suzanne C. E. H.
van Hagen, Johanna M.
Plomp, Astrid S.
Kroes, Hester Y.
Lelieveld, Stefan H.
Hehir-Kwa, Jayne Y.
Castelein, Steven
Nelen, Marcel
Scheffer, Hans
Lugtenberg, Dorien
Cremers, Frans P. M.
Hoefsloot, Lies
Yntema, Helger G. |
| Dokumenttyp: |
Artikel |
| Erscheinungsdatum: |
2017 |
| Reihe/Periodikum: |
Haer-Wigman , L , van Zelst-Stams , W A G , Pfundt , R , van den Born , L I , Klaver , C C W , Verheij , J B G M , Hoyng , C B , Breuning , M H , Boon , C J F , Kievit , A J , Verhoeven , V J M , Pott , J W R , Sallevelt , S C E H , van Hagen , J M , Plomp , A S , Kroes , H Y , Lelieveld , S H , Hehir-Kwa , J Y , Castelein , S , Nelen , M , Scheffer , H , Lugtenberg , D , Cremers , F P M , Hoefsloot , L & Yntema , H G 2017 , ' Diagnostic exome sequencing in 266 Dutch patients with visual impairment ' , European Journal of Human Genetics , vol. 25 , no. 5 , pp. 591-599 . https://doi.org/10.1038/ejhg.2017.9 |
| Schlagwörter: |
RETINITIS-PIGMENTOSA
/ CONGENITAL CATARACT
/ EYE DISEASE
/ MUTATIONS
/ DYSTROPHY
/ RECOMMENDATIONS
/ IDENTIFICATION
/ BLINDNESS
/ PROTEIN |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-27440177 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://cris.maastrichtuniversity.nl/en/publications/a5c3b06a-6173-4d69-8420-8ea363ce4876 |
