Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35.
Francois-Neetens fleck (mouchetée) corneal dystrophy is an autosomal dominant corneal dystrophy characterized by scattered small white flecks occurring at all levels of the corneal stroma. We report linkage of the CFD locus to D2S2289 (Z(max)=4.46, theta=0), D2S325 (Z(max)=3.28, theta=0), D2S317 (Z(max)=3.1, theta=0), D2S143 (Z(max)=3.8, theta=0.03), and D2S2382 (Z(max)=5.0, theta=0) on chromosome 2q35. Multipoint analysis confirmed linkage to the region between D2S117 and D2S126 with a maximum multipoint lod score of 5.0 located midway between D2S2289 and D2S325. Analysis of CFD in these same families assuming a 90% penetrance increased the maximum lod score to 6.28 at D2S157.
Jiao
Xiaodong
X
Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, Maryland 20892-1860, USA.
Munier
Francis L
FL
Schorderet
Daniel F
DF
Zografos
Leonidas
L
Smith
Janine
J
Rubin
Benjamin
B
Hejtmancik
J Fielding
JF
D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003317:Corneal Dystrophies, Hereditary / Q000209:etiology / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D019683:Penetrance