title: A genome scan conducted in a multigenerational pedigree with convergent strabismus supports a complex genetic determinism.
abstract: 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.
authors.affiliation: Department of Ophtalmology, Faculty of Medicine, University of Liège (CHU), Liège, Belgium.
authors.forename: Anouk
authors.initials: A
authors.lastname: Georges
authors.affiliation: Unit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège (B34), Liège, Belgium.
authors.forename: Nadine
authors.initials: N
authors.lastname: Cambisano
authors.affiliation: Unit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège (B34), Liège, Belgium.
authors.forename: Naïma
authors.initials: N
authors.lastname: Ahariz
authors.affiliation: GIGA-R Genotranscriptomics Core Faclity, University of Liège (B34), Liège, Belgium.
authors.forename: Latifa
authors.initials: L
authors.lastname: Karim
authors.affiliation: Unit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège (B34), Liège, Belgium.
authors.forename: Michel
authors.initials: M
authors.lastname: Georges
mesh_terms: D002675:Child, Preschool; D004948:Esotropia / Q000235:genetics*; D005260:Female; D033141:Genetic Determinism; D008040:Genetic Linkage; D015894:Genome, Human / Q000235:genetics; D023281:Genomics; D006801:Humans; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide