THE BELGIAN OPHTHALMIC ASSOCIATIONS
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Deze abstract is toegekend aan sessie SBO-BOG Free papers: Genetica/Génétique
| Titel | A common NYX mutation in Flemish patients with X-linked CSNB |
| Doel | The Schubert-Bornschein type of complete congenital stationary night blindness (CSNB) is a genetically heterogeneous retinal disorder. So far mutations in two genes, NYX and GRM6 have been associated with this type of CSNB. The purpose of this study was to identify the genetic defect in affected male patients from Flemish families with complete CSNB and X-linked inheritance. |
| Methodes | Probands with CSNB from 3 large Flemish families underwent an extensive ophthalmologic examination. DNA was extracted from peripheral blood and the coding region of NYX along with parts of the 5`UTR and 3`UTR and intronic regions covering the splice sites were PCR amplified and sequenced. |
| Resultaten | In affected individuals with the complete form of CSNB a novel NYX mutation, c.855delG was identified. This deletion is predicted to lead to a frameshift mutation, p.Asp286ThrfsX62, resulting in a premature stop codon. |
| Conclusie | The c.855delG deletion in NYX seems to be a common mutation associated with CSNB in the Flemish population from Belgium. Hence, we suggest performing diagnostic testing for CSNB in the Flemish population initially directed towards the identification of this mutation. Subsequent screening for other mutations in NYX or GRM6 can then be performed as a second step. |
Auteur 1
| Naam | LEROY |
| Initialen | BP |
| Instituut | Dept of Ophthalmology & Ctr for Med Genetics, Ghent University Hospital |
| Stad | Ghent |
Auteur 2
| Naam | BUDDE |
| Initialen | BS |
| Instituut | Cologne Ctr of Genomics & Inst for Genetics, University of Cologne |
| Stad | Köln |
Auteur 3
| Naam | WITTMER |
| Initialen | M |
| Instituut | Div of Med Molec Genetics & Gene Diagnostics, Inst of Med Genetics, University of Zurich |
| Stad | Schwerzenbach |
Auteur 4
| Naam | DE BAERE |
| Initialen | E |
| Instituut | Ctr for Med Genetics, Ghent University Hospital |
| Stad | Ghent |
Auteur 5
| Naam | BERGER |
| Initialen | W |
| Instituut | Div of Med Molec Genetics & Gene Diagnostics, Inst of Med Genetics, University of Zurich |
| Stad | Schwerzenbach |
Auteur 6
| Naam | ZEITZ |
| Initialen | C |
| Instituut | Dept of Genetics, Inst de la Vision, Université Pierre et Marie Curie Paris 6 |
| Stad | Paris |