title: Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype.
abstract: 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.
authors.forename: Josephine
authors.initials: J
authors.lastname: Wincent
authors.forename: Astrid
authors.initials: A
authors.lastname: Schulze
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Schoumans
mesh_terms: D003103:Coloboma / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D004423:Ear / Q000002:abnormalities*; D005091:Exons; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human