Nance-Horan Syndrome: Linkage Analysis in a Family from The Netherlands

• Published in: Genomics (San Diego, Calif.) Vol. 21; no. 1; pp. 238 - 240
• Main Authors: Bergen, Arthur A.B., ten Brink, Jacoline, Schuurman, Ellen J.M., Bleeker-Wagemakers, Elisabeth M.
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 01.05.1994; Elsevier
• Subjects: Abnormalities, Multiple - genetics; BASIC BIOLOGICAL SCIENCES; Biological and medical sciences; BODY; BODY AREAS; Cataract - genetics; CHROMOSOMES; DISEASES; Diseases of cornea, anterior segment and sclera; Ear - abnormalities; ETIOLOGY; EYES; FACE; Female; Genes, Recessive; GENETIC MAPPING; Haplotypes - genetics; HEAD; HEREDITARY DISEASES; HETEROCHROMOSOMES; HUMAN CHROMOSOMES; HUMAN X CHROMOSOME; Humans; Lod Score; Male; MAPPING; Medical sciences; Meiosis; MENTAL DISORDERS; Microphthalmos - genetics; Netherlands; Ophthalmology; ORGANS; Pedigree; SENSE ORGANS; Syndrome; Tooth Abnormalities - genetics; X Chromosome; X CHROMOSOME 550400 > Genetics; Netherlands; Genetic mapping; Human; Eye disease; Cataract; Lens disease; Linkage; X-Chromosome; Genetic disease
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1994.1248

Linkage analysis was carried out in a Dutch family with Nance-Horan (NH) syndrome. Close linkage without recombination between NH and the Xp loci DXS207, DXS43, and DXS365 ( z max = 3.23) was observed. Multipoint linkage analysis and the analysis of recombinations in multiple informative meioses suggest the genetic order Xcen-DMD (exon 49)-DXS451-(NH, DXS207, DXS365, DXS43)-(STS, DXF30)-Xpter. These data refine the localization of the NH locus on the distal Xp.