Ocular coloboma, heart malformation, choanal atresia, retardation of growth 
and/or development, genital hypoplasia, and ear anomalies associated with 
deafness (CHARGE) syndrome is a rare, usually sporadic, autosomal dominant 
disorder, caused by mutations within the CHD7 (chromodomain helicase DNA-binding 
protein 7) gene, in nearly 70% of cases. Because human CHD7 is relatively large 
(38 exons encoding a 300-kDa protein), genetic analysis requires cost-effective 
and time-consuming techniques. Herein, we propose an alternative screening 
method to quickly detect CHD7 mutations using mainly denaturing high-performance 
liquid chromatography. The entire coding region with exon-intron boundaries was 
amplified under the same experimental conditions. Each amplicon of the same CHD7 
region was subjected to denaturing high-performance liquid chromatography 
analysis, and resulting chromatograms were compared within small series of 
patients. Because a CHD7 mutation differs generally from one patient to another, 
corresponding chromatograms exhibited a unique pattern that is significantly 
different from common polymorphisms. Only amplicons exhibiting a unique profile 
were subjected to DNA sequencing analysis. Intragenic rearrangements were 
investigated with only nine multiplex PCRs. In conclusion, using our protocol, 
we can quickly detect the right containing mutation amplicon and we provide a 
robust, rapid, and cheaper method to screen CHD7 microrearrangements or an 
entire deletion.