Table 2.

Final diagnoses in 28 patients with negative RASopathy next-generation sequencing test results

Final diagnosis
Cytogenetic disorders
Unbalanced translocation: 46,XY,der(9)t(2;9)(q34;p23)
7.01 Mb terminal deletion on chromosome 11q24.3q25, Jacobsen  syndrome
4.23 Mb deletion of 4p16.3, Wolff-Hirschhorn syndrome
2.73 Mb duplication of 1q21.1q21.2
1.74 Mb duplication of 1q21.3q22
22q11.2 duplication (A to D region)
313 kb deletion of 8q24.3
411 kb duplication of 16q24.1
1.92 Mb duplication of 15q26.1
62.9 Mb maternal uniparental isodisomy 20p13q13.33
Single-gene disorders
IFT122 p.A446V homo, cranioectodermal dysplasia type I
ARID1B p.G351AfsX12 het, Coffin-Siris syndrome
MRPS22 p.R170H; p.G257KfsX3 comp het, combined oxidative  phosphorylation deficiency 5
GHR p.R179C het, paternally inherited, GHR
FERMT3 p.R573* homo, leukocyte adhesion deficiency
SLC25A3 p.L200W, p.G296_S300delinsQIF compound het,  mitochondrial phosphate carrier deficiency
NF1 p.K1423G het, neurofibromatosis with Noonan syndrome–like  features
FZD6 p.R116* and p.C461R compound het, disease-candidate gene
IDUA p.Q70* homo, mucopolysaccharidosis type I
NEBL p.S539* het, dilated cardiomyopathy
PEX12 c.888_889del CT and c.894delC compound het, peroxisome  biogenesis disorder 3A (Zellweger)
RBM10 p.M415L hemi, de novo TARP syndrome
BZRAP1 p.R1375* and p.R215G compound het, disease-candidate  gene
KMT2A p.S2110* het, de novo Wiedemann–Steiner syndrome
Clinically diagnosed syndromes
Beckwith–Wiedemann syndrome and probably an additional  undiagnosed syndrome
Ehlers–Danlos syndrome
Segmental neurofibromatosis type I
Jeune syndrome

Neurofibromatosis type I was found in two patients; all other diagnoses found were in one patient each.

TARP syndrome: talipes equinovarus, atrial septal defect, Robin sequence, and persistence of the left superior vena cava.