Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype

Bergman et al. performed a search for exon copy number alterations in the CHD7 gene using MLPA in CHARGE syndrome patients who did not have a CHD7 mutation. Based on their results they recommended to extend testing using MLPA solely in individuals with a typical CHARGE syndrome phenotype. However, since we have found deletions comprising the CHD7 gene in three patients with a less typical phenotype we recommend performing MLPA testing in all CHARGE syndrome patients without causal CHD7 mutations.