Article

An integrated computational, clinical, and functional framework for assessing <i>PTPN11</i> (SHP2) variant effects on ERK signaling and neural crest cell behavior in Noonan spectrum disorders

2026-07-13

Abstract excerpt

Germline mutations in PTPN11 cause Noonan syndrome (NS) and NS with multiple lentigines (NSML), yet how specific variants drive divergent clinical outcomes through distinct signaling and developmental mechanisms remains unclear. We find that germline and somatic mutations converge on N-SH2 and PTP domains but diverge at residue-level hotspots, reflecting distinct selective pressures. Clinical stratification of 18...

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Literature Corpus work: 8137a838-027b-58c4-9c50-0569d60dc2e5
DOI: 10.64898/2026.07.09.26357683

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