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.