PLoS ONE (2013-01-01)

A genome scan conducted in a multigenerational pedigree with convergent strabismus supports a complex genetic determinism.

  • Anouk Georges,
  • Nadine Cambisano,
  • Naïma Ahariz,
  • Latifa Karim,
  • Michel Georges

DOI
https://doi.org/10.1371/journal.pone.0083574
Journal volume & issue
Vol. 8, no. 12
p. e83574

Abstract

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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.