Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)

[摘要] Purpose: To perform linkage analysis onan inbred family with members who exhibit different phenotypic forms ofchildhood strabismus. Methods: Prospective clinicalexamination and linkage analysis. Results: Three of the ten siblings andtheir cousin each had a different phenotypic form of childhoodstrabismus: infantile esotropia with convergence excess, esotropiaassociated with anisometropic amblyopia, unilateral esotropic Duanesyndrome, and monocular elevation deficiency. Linkage analysis for thefour strabismic individuals, an unaffected sibling, and the unaffectedparents identified a single disease locus on chromosome 16p13.12-p12.3(Ensembl cytogenetic band) with a 2.5 maximum logarithm of odds score.The region is 6 MB in size and comprises 80 genes. Discussion: Linkage analysis in thisunique family suggests that childhood strabismus can be recessive andthat different phenotypic forms of childhood strabismus can share thesame underlying genotype.

[学科分类] 生物化学/生物物理