Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family.
Congenital motor nystagmus (CMN), a subtype of nystagmus, may reduce vision or be associated with other, more serious, conditions that limit vision. The genetic basis for CMN is still unknown. To identify a locus for CMN, genotyping and linkage analysis were performed in 22 individuals from a Chinese family with X-linked CMN using markers from X chromosome. The maximum LOD score obtained for microsatellite maker DXS1192 linked the CMN locus in this family to Xq. By haplotype construction the locus for CMN was finally localized to an approximately 4.4-cM region at chromosome Xq26.3-q27.1. The SLC9A6 and FGF13 genes in this region, were selected and screened for mutation in this family, but no mutation was detected.
Zhang
Baorong
B
Department of Neurology of Second Hospital, Affiliated Zhejiang University, 310009 Hangzhou, China. brzhang@zju.edu.cn
Xia
Kun
K
Ding
Meiping
M
Liang
Desheng
D
Liu
Zhirong
Z
Pan
Qian
Q
Hu
Zhengmao
Z
Wu
Ling-Qian
LQ
Cai
Fang
F
Xia
Jiahui
J
D002681:China; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D020417:Nystagmus, Congenital / Q000235:genetics*; D010375:Pedigree