Jc. Evans et al., Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31, HUM GENET, 106(6), 2000, pp. 636-638
Duane's syndrome is a congenital abnormality of eye movement, which may be
inherited as an autosomal dominant trait but usually occurs sporadically. G
enetic mapping in a Mexican family has recently identified a locus for Duan
e's syndrome within a 17.8-cM region of chromosome 2q31. The region was fla
nked by the microsatellite markers D2S2330 and D2S364. We performed linkage
and haplotype analysis in a four-generation UK family with autosomal domin
ant transmission of Duane's syndrome. Linkage to 2q31 was confirmed with a
maximum logarithm of differences (lod) score of 3.3 at theta=0. The genetic
interval was reduced to an 8.8-cM region between markers D2S326 and D2S364
that includes the candidate homeobox D gene cluster.