title: 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.
authors.affiliation: Centre de Recherches Thérapeutiques en Ophtalmologie (CERTO), Faculté de Médecine Necker, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Rouillac
authors.forename: O
authors.initials: O
authors.lastname: Roche
authors.forename: D
authors.initials: D
authors.lastname: Marchant
authors.forename: L
authors.initials: L
authors.lastname: Bachner
authors.forename: A
authors.initials: A
authors.lastname: Kobetz
authors.forename: P J
authors.initials: PJ
authors.lastname: Toulemont
authors.forename: C
authors.initials: C
authors.lastname: Orssaud
authors.forename: M
authors.initials: M
authors.lastname: Urvoy
authors.forename: S
authors.initials: S
authors.lastname: Odent
authors.forename: B
authors.initials: B
authors.lastname: Le Marec
authors.forename: M
authors.initials: M
authors.lastname: Abitbol
authors.forename: J L
authors.initials: JL
authors.lastname: Dufier
mesh_terms: D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic