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High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.

Journal of applied genetics - 1 May 2024

Ouboukss Fatima, Adadi Najlae, Amasdl Saadia, Smaili Wiam, Laarabi Fatima Zahra, Lyahyai Jaber, Sefiani Abdelaziz, Ratbi Ilham

Abstract excerpt

Noonan syndrome (NS; OMIM 163950) is an autosomal dominant RASopathy with variable clinical expression and genetic heterogeneity. Clinical manifestations include characteristic facial features, short stature, and cardiac anomalies. Variants in protein-tyrosine phosphatase, non-receptor-type 11 (PTPN11), encoding SHP-2, account for about half of NS patients, SOS1 in approximately 13%, RAF1 in 10%, and RIT1 each in...

Topics

Humans
alpha-Macroglobulins
Exons
Intracellular Signaling Peptides and Proteins
Mutation
Noonan Syndrome
Phenotype
Protein Tyrosine Phosphatase, Non-Receptor Type 11
ras GTPase-Activating Proteins
Repressor Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37987971
DOI: 10.1007/s13353-023-00803-6

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