Gene Identification Through Array CGH: The CHARGE Syndrome

Abstract

In this study we have used high-resolution genome-wide DNA copy number screening by array-based comparative genomic hybridization (array CGH) to identify the underlying genetic cause of this malformation syndrome. Through this screening we identified overlapping microdeletions on chromosome 8 in two CHARGE patients. These microdeletions pointed us to CHD7, the gene mutated in the majority of cases. These results were published in Nature Genetics.

This study demonstrates an effective novel approach to identify disease-causing genes. This approach is of special interest for sporadic malformation syndromes that cannot be tackled by other mapping approaches because of reproductive lethality.