Molecular characterization using exome sequencing of two probands with the undiagnosed developmental delay from Central Brazil

Noonan syndrome (NS) is a heterogeneous autosomal dominant disorder caused by germline mutations in genes belonging RAS-MAPK pathway. Herein, we described two patients with developmental delay and syndromic features from Central Brazil diagnosed NS using an exome sequencing target gene panel. Germline mutation that participates the signaling pathway are associated disorders share particular clinical such as craniofacial dysmorphisms, congenital heart defects, musculoskeletal ocular abnormalities, neurocognitive impairment. The through intellectual disability panel was effective approach to identify de novo pathogenic SOS1 PTPN11 responsible for efficient method direct adequate management better follow-up of probands their families.