Related Experiment Video

Updated: May 13, 2026

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

[Clinical and molecular study of the Noonan syndrome]

Francisco Cammarata-Scalisi1, Giovanni Neri, Maria Grazia Pomponi

  • 1Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela. francocammarata19@gmail.com

Investigacion Clinica
|March 22, 2013
PubMed

Insights

Noonan syndrome, a genetic disorder, is caused by mutations in the PTPN11 gene. This case study details a PTPN11 gene mutation (G503R) in an 18-month-old boy diagnosed with Noonan syndrome.

Area of Science:

  • Genetics
  • Pediatrics
  • Molecular Biology

Background:

  • Noonan syndrome is an autosomal dominant disorder with variable clinical presentation and genetic causes.
  • It is characterized by distinctive facial features, cardiac anomalies, growth retardation, and cognitive deficits.
  • The PTPN11 gene on chromosome 12 is a major genetic contributor to Noonan syndrome.

Observation:

  • This report presents a case of an 18-month-old boy with Noonan syndrome.
  • The diagnosis was confirmed through both clinical evaluation and molecular testing.
  • A specific missense mutation, G503R (c.1507 G>A), was identified in the PTPN11 gene.

Findings:

  • The identified G503R mutation in the PTPN11 gene is associated with Noonan syndrome.
  • The study discusses the clinical manifestations observed in the patient.
  • Genetic alterations linked to this specific mutation are explored.

Implications:

  • This case highlights the importance of genetic testing in diagnosing Noonan syndrome.
  • Understanding the PTPN11 G503R mutation can aid in predicting clinical outcomes.
  • Further research into genotype-phenotype correlations in Noonan syndrome is warranted.

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