Confirmation and refinement of a genetic locus of congenital motor nystagmus in xq26.3-q27.1 in a Chinese family

• Published in: Human genetics Vol. 116; no. 1-2; pp. 128 - 131
• Main Authors: BAORONG ZHANG, KUN XIA, MEIPING DING, DESHENG LIANG, ZHIRONG LIU, QIAN PAN, ZHENGMAO HU, WU, Ling-Qian, FANG CAI, JIAHUI XIA
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 2005; Berlin Springer Nature B.V; New York, NY
• Subjects: Biological and medical sciences; China; Chromosome Mapping; Chromosomes, Human, X; Classical genetics, quantitative genetics, hybrids; Congenital diseases; Female; Fundamental and applied biological sciences. Psychology; Genes; Genetic Linkage; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes; Human; Humans; Lod Score; Male; Medical sciences; Mutation; Nystagmus, Congenital - genetics; Oculomotor disorders; Ophthalmology; Pedigree; X chromosomes; China; China, People's Rep; Eye disease; Congenital; Nystagmus; Chinese; Genetics; Oculomotor syndrome; Locus
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s00439-004-1188-5

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.