Results
The karyotype and the array-CGH analysis from chorionic villus sampling (CVS) showed a normal female profile.
Fast trio-based whole exome sequencing (WES) analysis, performed when the patient was in very critical condition, detected a previously reported de novo heterozygous NRAS missense variant (NM_002524.4:c.34G>A; p.Gly12Ser) in 9 days (REF: Cirstea et al (2010) Nat Genet; ClinVar; Variation ID 177778).
We performed targeted deep sequencing of 21 selected genes belonging to the PI3K/AKT/ mTOR pathway on saliva sample. No pathogenic variants were found.