title: Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.
abstract: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal degeneration characterized by multiple glistening intraretinal dots scattered over the fundus, degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Although BCD has been associated with abnormalities in fatty-acid metabolism and absence of fatty-acid binding by two cytosolic proteins, the genetic basis of BCD is unknown. We report linkage of the BCD locus to D4S426 (maximum LOD score [Z(max)] 4.81; recombination fraction [straight theta] 0), D4S2688 (Zmax=3.97; straight theta=0), and D4S2299 (Zmax=5.31; straight theta=0), on chromosome 4q35-4qtel. Multipoint analysis confirmed linkage to the region telomeric of D4S1652 with a Z(max) of 5.3 located 4 cM telomeric of marker D4S2930.
authors.affiliation: Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, MD 20892, USA.
authors.forename: X
authors.initials: X
authors.lastname: Jiao
authors.forename: F L
authors.initials: FL
authors.lastname: Munier
authors.forename: F
authors.initials: F
authors.lastname: Iwata
authors.forename: M
authors.initials: M
authors.lastname: Hayakawa
authors.forename: A
authors.initials: A
authors.lastname: Kanai
authors.forename: J
authors.initials: J
authors.lastname: Lee
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: M S
authors.initials: MS
authors.lastname: Chen
authors.forename: M
authors.initials: M
authors.lastname: Kaiser-Kupfer
authors.forename: J F
authors.initials: JF
authors.lastname: Hejtmancik
mesh_terms: D002681:China; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000503:physiopathology; D003459:Crystallins / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005060:Europe; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007564:Japan; D008126:Lod Score; D008297:Male; D010375:Pedigree
chemical_list: D003459:Crystallins; D005819:Genetic Markers