[en] A genome-wide linkage scan was conducted in a Northern-European multigenerational pedigree with nine of 40 related members affected with concomitant strabismus. Twenty-seven members of the pedigree including all affected individuals were genotyped using a SNP array interrogating > 300,000 common SNPs. We conducted parametric and non-parametric linkage analyses assuming segregation of an autosomal dominant mutation, yet allowing for incomplete penetrance and phenocopies. We detected two chromosome regions with near-suggestive evidence for linkage, respectively on chromosomes 8 and 18. The chromosome 8 linkage implied a penetrance of 0.80 and a rate of phenocopy of 0.11, while the chromosome 18 linkage implied a penetrance of 0.64 and a rate of phenocopy of 0. Our analysis excludes a simple genetic determinism of strabismus in this pedigree.
Disciplines :
Ophthalmology
Author, co-author :
GEORGES, Anouk ; Centre Hospitalier Universitaire de Liège - CHU > Ophtalmologie
Cambisano, Nadine ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Ahariz, Naïma ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Karim, Latifa ; Université de Liège - ULiège > Département des sciences de la vie > GIGA-R : Biologie et génétique moléculaire
Georges, Michel ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Language :
English
Title :
A genome scan conducted in a multigenerational pedigree with convergent strabismus supports a complex genetic determinism.
Publication date :
December 2013
Journal title :
PLoS ONE
eISSN :
1932-6203
Publisher :
Public Library of Science, United States - California
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