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Article

Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigree.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences - 15 May 2026

Xu Wei-Jing, Xie Li-Jun, Chen Wen-Jun, Chen Jia-Bin, Zou Jing, Xu Zi-Yan, Wang Ruo-Li, Wang Xiao-Lan, Wei Jia, Zhang Jian-Hui, Chen Qian, Yu Hong-Ping, Ruan Dan-Dan, Gao Mei-Zhu, Zhang Li, Zhu Yao-Bin, Huang Fang-Meng, Liao Li-Sheng, Luo Jie-Wei, Lin Xin-Fu

Abstract excerpt

Noonan syndrome (NS) is a common autosomal dominant disorder with considerable clinical heterogeneity. Mutations in the PTPN11 gene, encoding the SHP2 protein, constitute the most prevalent genetic cause of NS. Genetic sequencing of a pedigree exhibiting typical facial dysmorphism and short stature identified the same heterozygous PTPN11 variant (NM_001330437.2: c.923 A > G, p.Asn308Ser) in all seven affected...

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Identifiers

PMID: 41843963
DOI: 10.1016/j.jchromb.2026.124972

Genes

PTPN11
GRB2
SRC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigree.PMID 41843963Read ↗

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