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Cone dystrophies are a rare subgroup of inherited retinal dystrophies and hallmarked by color vision defects, low or decreasing visual acuity and central vision loss, nystagmus and photophobia. Applying genome-wide linkage analysis and array comparative genome hybridization, we identified a locus for autosomal dominant cone dystrophy on chromosome 16q12 in four independent multigeneration families. The locus is defined by duplications of variable size with a smallest region of overlap of 608 kb affecting the  IRXB  gene cluster and encompasses the genes  IRX5  and  IRX6 . IRX5 and IRX6 belong to the Iroquois (Iro) protein family of homeodomain-containing transcription factors involved in patterning and regionalization of embryonic tissue in vertebrates, including the eye and the retina. All patients presented with a unique progressive cone dystrophy phenotype hallmarked by early tritanopic color vision defects. We propose that the disease underlies a misregulation of the  IRXB  gene cluster on chromosome 16q12 and demonstrate that overexpression of  Irx5a  and  Irx6a , the two orthologous genes in zebrafish, results in visual impairment in 5-day-old zebrafish larvae.

human molecular genetics

A duplication on chromosome 16q12 affecting the  IRXB  gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect