Table 4.

Selected Genes of Interest in the Differential Diagnosis of Posterior Embryotoxon and Pulmonic Vascular System Abnormalities

Key Overlapping Clinical FeatureGene / Genetic MechanismDisorderMOI
Posterior embryotoxon FOXC1 Axenfeld-Rieger syndrome (OMIM PS180500)AD
PITX2
Pulmonic vascular system abnormalities Deletion of WBSCR on chromosome 7q11.23 Williams syndrome AD
NF1 Neurofibromatosis 1 & NF1 phenotypic variants (NF1-Noonan syndrome & Watson syndrome)AD
BRAF
KRAS
LZTR1
MAP2K1
MRAS
NRAS
PTPN11
RAF1
RASA2
RIT1
RRAS2
SOS1
SOS2 		Noonan syndrome AD
(AR) 1
PTPN11
RAF1
BRAF
MAP2K1 		Noonan syndrome with multiple lentigines AD

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; WBSCR = Williams-Beuren syndrome critical region

1.

Noonan syndrome is most often inherited in an autosomal dominant manner. Noonan syndrome caused by pathogenic variants in LZTR1 can be inherited in either an autosomal dominant or an autosomal recessive manner.

From: Alagille Syndrome

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