Noonan's syndrome and related disorders

Clinical-molecular update and guidelines

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Noonan's syndrome (NS), LEOPARD syndrome (LS) and Noonan's-like/multiple giant cell lesion syndrome (NL/MGCLS) are clinically and genetically related conditions. The phenotype of these disorders is mainly characterised by short stature, facial dysmorphims, and congenital heart defects, in particular pulmonary valve stenosis and hypertrophic cardiomyopathy. In addition, individuals with LS present cafè-au-lait spots and multiple lentigines, while NL/MGCLS patients show giant cell lesions of bones, joints and/or soft tissues. These disorders are often due to missense mutations of the PTPN11 gene, encoding for SHP2, a protein tyrosine phosphatase involved in RAS signalling. Here we propose clinical and molecular guidelines for baseline and follow-up management of affected individuals, with the aim of advising clinicians and scientists involved in the management of patients with NS and related disorders.

Original languageEnglish
Pages (from-to)145-155
Number of pages11
JournalItalian Journal of Pediatrics
Volume32
Issue number3
Publication statusPublished - 2006

Fingerprint

LEOPARD Syndrome
Noonan Syndrome
Lentigo
Guidelines
Protein Tyrosine Phosphatases
Pulmonary Valve Stenosis
Congenital Heart Defects
Hypertrophic Cardiomyopathy
Missense Mutation
Giant Cells
Joints
Phenotype
Bone and Bones
Genes
Noonan like syndrome

Keywords

  • Guidelines
  • LEOPARD syndrome
  • Noonan's syndrome
  • PTPN11

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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abstract = "Noonan's syndrome (NS), LEOPARD syndrome (LS) and Noonan's-like/multiple giant cell lesion syndrome (NL/MGCLS) are clinically and genetically related conditions. The phenotype of these disorders is mainly characterised by short stature, facial dysmorphims, and congenital heart defects, in particular pulmonary valve stenosis and hypertrophic cardiomyopathy. In addition, individuals with LS present caf{\`e}-au-lait spots and multiple lentigines, while NL/MGCLS patients show giant cell lesions of bones, joints and/or soft tissues. These disorders are often due to missense mutations of the PTPN11 gene, encoding for SHP2, a protein tyrosine phosphatase involved in RAS signalling. Here we propose clinical and molecular guidelines for baseline and follow-up management of affected individuals, with the aim of advising clinicians and scientists involved in the management of patients with NS and related disorders.",
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T2 - Clinical-molecular update and guidelines

AU - Sarkozy, A.

AU - Digilio, M. C.

AU - Marino, B.

AU - Mingarelli, R.

AU - Tartaglia, M.

AU - Dallapiccola, Bruno

PY - 2006

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N2 - Noonan's syndrome (NS), LEOPARD syndrome (LS) and Noonan's-like/multiple giant cell lesion syndrome (NL/MGCLS) are clinically and genetically related conditions. The phenotype of these disorders is mainly characterised by short stature, facial dysmorphims, and congenital heart defects, in particular pulmonary valve stenosis and hypertrophic cardiomyopathy. In addition, individuals with LS present cafè-au-lait spots and multiple lentigines, while NL/MGCLS patients show giant cell lesions of bones, joints and/or soft tissues. These disorders are often due to missense mutations of the PTPN11 gene, encoding for SHP2, a protein tyrosine phosphatase involved in RAS signalling. Here we propose clinical and molecular guidelines for baseline and follow-up management of affected individuals, with the aim of advising clinicians and scientists involved in the management of patients with NS and related disorders.

AB - Noonan's syndrome (NS), LEOPARD syndrome (LS) and Noonan's-like/multiple giant cell lesion syndrome (NL/MGCLS) are clinically and genetically related conditions. The phenotype of these disorders is mainly characterised by short stature, facial dysmorphims, and congenital heart defects, in particular pulmonary valve stenosis and hypertrophic cardiomyopathy. In addition, individuals with LS present cafè-au-lait spots and multiple lentigines, while NL/MGCLS patients show giant cell lesions of bones, joints and/or soft tissues. These disorders are often due to missense mutations of the PTPN11 gene, encoding for SHP2, a protein tyrosine phosphatase involved in RAS signalling. Here we propose clinical and molecular guidelines for baseline and follow-up management of affected individuals, with the aim of advising clinicians and scientists involved in the management of patients with NS and related disorders.

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