In addition to the identification of known recurrent CNVs, such as deletions 6qter, 18q21 (including TCF4), 1q43q44, 17p13.3, 14q12, 3q13, 3p26, and 3q26 (including SOX2), our analysis allowed us to refine the 2 known critical regions associated with 8q21.1 deletion and 19p13.1 duplication relevant for corpus callosum abnormality; report a novel 10p12 deletion including ZEB1 recently implicated in corpus callosum abnormality with corneal dystrophy; and) report a novel pathogenic 7q36 duplication encompassing SHH.
In the present study, we screened several reported SNPs (rs2286812, rs17595731 and rs613827 in TCF4; rs7640737 and rs2292245 in PTPRG) in FED and non-Fuchs' patients with corneal dystrophies of southern Chinese.