Behavioral signs of CHARGE syndrome and CHD7 mutational spectrum

Introduction CHARGE syndrome is a genetic entity caused by mutations in the chromodomain helicase DNA-binding protein 7 gene (CHD7) at 8q12.1. There are pleiotropic signs among individuals with this disorder. Diagnosis clinical using medical criteria. CHD7 usually found 90% of affected patients. Objectives The aim study was to report behavioral and their phenotype-genotype correlations. Methods Four Tunisian males from Sfax (Tunisia) features suggestive were examined our counselling University Sfax. Assessment facial dysmorphic features, karyotyping RHG banding molecular screening performed. Molecular analysis made direct Sanger sequencing entire gene. Results revealed two deletions exon 3 for first patient 8 second. alterations associated retarded growth development genital hypoplasia. Sensory impairments included visual defects second auditory olfactory defects. Besides constant delayed psychomotor development, patients shared receptive expressive communication disorders, anxiety, attention deficit, cognitive impairment intellectual disability. no aggressive traits nor major autistic features. Learning disabilities also present Conclusions controls developmental pathways as transcriptional regulator nucleoplasm through chromatin organization. Mutational lead according domains, structure nonfunctional protein, perturbation regulation pathways’ genes expression. demonstrated an important component neurogenesis neuronal determination factors: Sox4 Sox11. While nonsense, frameshift missense most common, duplications less frequent. Moreover, while commonly altered, 8, which related chromodomain, very rare. Phenotype-genotype correlations type genomic alteration rarely published, particularly concerning psychological association. Here, physical disorders seem be different but common. Multidisciplinary care thus required must indicated because may key step more accurate management disorders. Disclosure Interest None Declared