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Mapping of a congenital microcoria locus to 13q31-q32.

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.

SUBMITTER: Rouillac C

PROVIDER: S-EPMC1377098 | biostudies-other | 1998 May

REPOSITORIES: biostudies-other

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Mapping of a congenital microcoria locus to 13q31-q32.

Rouillac C C Roche O O Marchant D D Bachner L L Kobetz A A Toulemont P J PJ Orssaud C C Urvoy M M Odent S S Le Marec B B Abitbol M M Dufier J L JL

American journal of human genetics 19980501 5

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 ...[more]

PMID: 9545411

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