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1
A neonate with Noonan syndrome was identified with a RIT1 c.247A>C variant, presenting with acute kidney injury and systemic capillary leak syndrome.
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2
Whole-exome sequencing confirmed a de novo heterozygous RIT1 variant, which significantly enhanced phosphorylation of key signaling proteins.
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3
Among 54 reported RIT1-associated Noonan syndrome cases, the p.Thr83Pro variant was found in 3.7% and was unique for its association with AKI and SCLS.
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4
The neonate's clinical features included progressive AKI, systemic capillary leak syndrome, refractory chylothorax, and a large patent ductus arteriosus.
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5
The study emphasizes the potential life-threatening nature of RIT1-associated Noonan syndrome in neonates, highlighting the need for early genetic testing.
