| Literature DB >> 12607114 |
Xiaodong Jiao1, Francis L Munier, Daniel F Schorderet, Leonidas Zografos, Janine Smith, Benjamin Rubin, J Fielding Hejtmancik.
Abstract
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.Entities:
Mesh：
Year: 2003 PMID： 12607114 DOI： 10.1007/s00439-002-0905-1
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132