E. Heon et al., LINKAGE OF AUTOSOMAL-DOMINANT IRIS HYPOPLASIA TO THE REGION OF THE RIEGER SYNDROME LOCUS (4Q25), Human molecular genetics, 4(8), 1995, pp. 1435-1439
Iris hypoplasia is an autosomal dominant disorder which is frequently
associated with glaucoma, This glaucoma is usually resistant to medica
l therapy and can lead to blindness, A large family of Scandinavian de
scent with a five generation history of iris hypoplasia was studied, F
ifteen individuals were found to have iris hypoplasia, nine of whom ha
d associated glaucoma, In an attempt to identify the chromosomal locat
ion of the disease-causing gene, this family was genotyped with short
tandem repeat polymorphisms (STRPs) known to map to loci previously as
sociated with glaucoma. The juvenile glaucoma locus at 1q25 and a cong
enital glaucoma locus on 6p were both statistically excluded, However,
significant linkage was demonstrated at the Rieger syndrome locus at
4q25. The highest observed LOD score was 3.70 (theta = 0) and was obta
ined with marker D4S1616., Three recombination events were observed in
affected individuals that together demonstrate that the disease-causi
ng gene lies between markers ACT3E03 and D4S1611, an interval of simil
ar to 7 cM. These results suggest that autosomal dominant iris hypopla
sia and Rieger syndrome are allelic.