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Cet abstract a été assigné à session SBO-BOG Free papers: Genetica/Génétique

Titre

Genotype-phenotype correlation of Stickler syndrome caused by mutations in the COL2A1 gene

But	To investigate and correlate the allelic heterogeneity and phenotypic variability in Stickler syndrome patients with a COL2A1 mutation
Méthodes	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
Résultats	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
Conclusion	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

Nom	HOORNAERT
Initiales	KP
Institut	Dept of Ophth and Ctr for Med Genet, Ghent Univ Hosp
Ville	Ghent, Belgium

Auteur 2

Nom	Dewinter
Initiales	C
Institut	Ctr for Med Genet, Ghent Univ Hosp
Ville	Ghent, Belgium

Auteur 3

Nom	Vereecke
Initiales	I
Institut	Ctr for Med Genet, Ghent Univ Hosp
Ville	Ghent, Belgium

Auteur 4

Nom	Van Aken
Initiales	EH
Institut	Dept of Ophth, Ghent Univ Hosp, Ghent, Belgium
Ville	Ghent, Belgium

Auteur 5

Nom	Leroy
Initiales	BP
Institut	Dept of Ophth and Ctr for Med Genet, Ghent Univ Hosp, Ghent, Belgium
Ville	Ghent, Belgium

Auteur 6

Nom	Coucke
Initiales	PJ
Institut	Ctr for Med Genet, Ghent Univ Hosp
Ville	Ghent, Belgium

Auteur 7

Nom	Mortier
Initiales	GR
Institut	Ctr for Med Genet, Ghent Univ Hosp
Ville	Ghent, Belgium