Table 1 . Prenatal and postnatal fetal as well as maternal
phenotypic characteristics and clinical outcome for two cases described
here, and other published cases with corresponding identical variants in
RIT1 gene.
+ – the characteristic was present, no – the characteristic was not
present, an empty square – no information, GA – gestational age in
weeks, CS – caesarian section, NP – not permitted/not performed, * –
duplication of renal collection system, ¥ – hyperechogenic left kidney,
§ – Dandy-Walker malformation, $ – cFTR not performed, 1st scan at GA
21, ¤ – severe at GA 25, p – superior vena cava, atrial septal defect,
bilateral talipes.
If GA or other information about the fetal demise is not written, it is
unknown or not provided by the authors.
REFERENCES
1. Roberts, A.E., et al., Noonan syndrome. Lancet, 2013.381 (9863): p. 333-42.
2. Cai, J. and H. Li, A novel RIT1 mutation causes deterioration
of Noonan syndrome-associated cardiac hypertrophy. EBioMedicine, 2019.42 : p. 6-7.
3. Cave, H., et al., Mutations in RIT1 cause Noonan syndrome with
possible juvenile myelomonocytic leukemia but are not involved in acute
lymphoblastic leukemia. Eur J Hum Genet, 2016. 24 (8): p.
1124-31.
4. Aoki, Y., et al., Recent advances in RASopathies. J Hum Genet,
2016. 61 (1): p. 33-9.
5. Milosavljevic, D., et al., Two cases of RIT1 associated Noonan
syndrome: Further delineation of the clinical phenotype and review of
the literature. Am J Med Genet A, 2016. 170 (7): p. 1874-80.
6. Calcagni, G., et al., Congenital heart defects in Noonan
syndrome and RIT1 mutation. Genet Med, 2016. 18 (12): p. 1320.
7. Yaoita, M., et al., Spectrum of mutations and
genotype-phenotype analysis in Noonan syndrome patients with RIT1
mutations. Hum Genet, 2016. 135 (2): p. 209-22.
8. Bertola, D.R., et al., Further evidence of the importance of
RIT1 in Noonan syndrome. Am J Med Genet A, 2014. 164A (11): p.
2952-7.
9. Yates, C.L., et al., Whole-exome sequencing on deceased fetuses
with ultrasound anomalies: expanding our knowledge of genetic disease
during fetal development. Genet Med, 2017. 19 (10): p.
1171-1178.
10. Hadlock, F.P., et al., Estimation of fetal weight with the use
of head, body, and femur measurements–a prospective study. Am J
Obstet Gynecol, 1985. 151 (3): p. 333-7.
11. Aoki, Y., et al., Gain-of-function mutations in RIT1 cause
Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet, 2013.93 (1): p. 173-80.
12. Gos, M., et al., Contribution of RIT1 mutations to the
pathogenesis of Noonan syndrome: four new cases and further evidence of
heterogeneity. Am J Med Genet A, 2014. 164A (9): p. 2310-6.
13. Kouz, K., et al., Genotype and phenotype in patients with
Noonan syndrome and a RIT1 mutation. Genet Med, 2016. 18 (12):
p. 1226-1234.
14. Sparks, T.N., et al., Exome Sequencing for Prenatal Diagnosis
in Nonimmune Hydrops Fetalis. N Engl J Med, 2020. 383 (18): p.
1746-1756.