THE BELGIAN OPHTHALMIC ASSOCIATIONS
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Deze abstract is toegekend aan sessie SBO-BOG Free papers: Genetica/Génétique
| Titel | Genotype-phenotype correlation of Stickler syndrome caused by mutations in the COL2A1 gene |
| Doel | To investigate and correlate the allelic heterogeneity and phenotypic variability in Stickler syndrome patients with a COL2A1 mutation |
| Methodes | In 188 probands with the referring diagnosis of Stickler syndrome, the 54 exons and intronic boundaries of COL2A1 were amplified by PCR and analysed by either a mutation scanning technique or bidirectional fluorescent DNA sequencing. The effect of splice site alterations was investigated by analysing RNA |
| Resultaten | We identified 100 heterozygous COL2A1 mutations, including 1 entire gene deletion, 27 nonsense mutations, 35 frameshift mutations, 25 splice site alterations, 1 synonymous mutation altering splicing, 5 arginine-to-cysteine substitutions and 5 glycine alterations. Each of the 13 investigated splice site mutations was shown to result in a premature stop codon. A binary logistic regression analysis of the clinical features, revealed 7 major indicators for a type 2 collagenopathy in Stickler syndrome: vitreous abnormalities, retinal detachment, retinal abnormalities, low nasal bridge, cleft palate, micrognathia and positive family history |
| Conclusie | Stickler syndrome type 1 is predominantly caused by loss-of-function mutations in the COL2A1 gene. We developed a phenotypic scoring system that facilitates distinction between patients with and without a COL2A1 mutation |
Auteur 1
| Naam | HOORNAERT |
| Initialen | KP |
| Instituut | Dept of Ophth and Ctr for Med Genet, Ghent Univ Hosp |
| Stad | Ghent, Belgium |
Auteur 2
| Naam | Dewinter |
| Initialen | C |
| Instituut | Ctr for Med Genet, Ghent Univ Hosp |
| Stad | Ghent, Belgium |
Auteur 3
| Naam | Vereecke |
| Initialen | I |
| Instituut | Ctr for Med Genet, Ghent Univ Hosp |
| Stad | Ghent, Belgium |
Auteur 4
| Naam | Van Aken |
| Initialen | EH |
| Instituut | Dept of Ophth, Ghent Univ Hosp, Ghent, Belgium |
| Stad | Ghent, Belgium |
Auteur 5
| Naam | Leroy |
| Initialen | BP |
| Instituut | Dept of Ophth and Ctr for Med Genet, Ghent Univ Hosp, Ghent, Belgium |
| Stad | Ghent, Belgium |
Auteur 6
| Naam | Coucke |
| Initialen | PJ |
| Instituut | Ctr for Med Genet, Ghent Univ Hosp |
| Stad | Ghent, Belgium |
Auteur 7
| Naam | Mortier |
| Initialen | GR |
| Instituut | Ctr for Med Genet, Ghent Univ Hosp |
| Stad | Ghent, Belgium |