Mapping of a congenital microcoria locus to 13q31-q32.
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.
Rouillac
C
C
Centre de Recherches Thérapeutiques en Ophtalmologie (CERTO), Faculté de Médecine Necker, Paris, France.
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
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