Endothelial dytrophy, iri hypoplaia, congenital cataract, and tromal thinning (edict) yndrome map to chromoome 15q22.1–q25.3

PURPOE: To localize a gene cauing a newly decribed autoomal dominant anterior egment dygenei characterized by corneal endothelial dytrophy, iri hypoplaia, congenital cataract, and corneal tromal thinning (EDICT yndrome). DEIGN: Experimental tudy. METHOD: A et of microatellite marker panning the 22 human autoome wa ued to perform linkage analyi on affected and unaffected individual within a ingle family. REULT: Linkage analyi of the anterior egment dygenei endothelial dytrophy, iri hypoplaia, congenital cataract, and tromal thinning (EDICT) yndrome in thi family revealed a logarithm of the odd (LOD) core of 2.71 on chromoome 15q22.1–25.3 between marker D15993 and D15202. Thee reult ugget a gene for EDICT yndrome lie in thi chromoomal region. CONCLUION: A LOD core of 2.71 ugget a novel locu aociated with the newly decribed EDICT yndrome lie in a region of chromoome 15 between marker D15993 and D15202. Identification of the dieae-cauing gene in thi region may yield inight into a broad range of diorder affecting the corneal troma, endothelium, iri, and len.