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  • Title: Mapping of a congenital microcoria locus to 13q31-q32.
    Author: Rouillac C, Roche O, Marchant D, Bachner L, Kobetz A, Toulemont PJ, Orssaud C, Urvoy M, Odent S, Le Marec B, Abitbol M, Dufier JL.
    Journal: Am J Hum Genet; 1998 May; 62(5):1117-22. PubMed ID: 9545411.
    Abstract:
    Congenital microcoria is an autosomal dominant disorder characterized by a pupil with a diameter <2 mm. It is thought to be due to a maldevelopment of the dilator pupillae muscle of the iris, and it is associated with juvenile-onset glaucoma. A total genome search for the location of the congenital microcoria gene was launched in a single large family. We found linkage between the disease and markers located on 13q31-q32 (Zmax = 9.79; theta = 0). Haplotype analysis narrowed the linked region to an interval <8 cM between markers D13S1239 proximally and D13S1280 distally.
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