A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome

Anna Sarkozy, Maria Gabriela Obregon, Emanuela Conti, Giorgia Esposito, Rita Mingarelli, Antonio Pizzuti, Bruno Dallapiccola

Research output: Contribution to journalArticle

45 Citations (Scopus)

Abstract

Noonan (NS) and multiple lentigines/LEOPARD syndromes (LS) have proved to be associated with distinct PTPN11 mutations. Noonan-like/multiple giant cell lesion syndrome (NLS) is a rare disease, characterised by short stature, facial dysmorphisms, congenital heart defect (CHD) and central giant cell lesions. PTPN11 gene mutations have been reported in a single NLS family and two sporadic patients. Here we report a patient with a complex phenotype progressing throughout the years from NS at birth towards LS and NLS. PTPN11 gene analysis disclosed a novel missense mutation (Ala461Thr) in exon 12, affecting the consensus sequence of the SHP2-active site. This observation joins together NS and LS to NLS into a unique genetic defect, broadening the clinical and molecular spectrum of PTPN11-related disorders.

Original languageEnglish
Pages (from-to)1069-1072
Number of pages4
JournalEuropean Journal of Human Genetics
Volume12
Issue number12
DOIs
Publication statusPublished - Dec 2004

Fingerprint

LEOPARD Syndrome
Noonan Syndrome
Mutation
Genes
Congenital Heart Defects
Consensus Sequence
Missense Mutation
Giant Cells
Rare Diseases
Exons
Catalytic Domain
Parturition
Phenotype
Noonan like syndrome

Keywords

  • Multiple giant cell lesions
  • Noonan syndrome
  • PTPN11

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. / Sarkozy, Anna; Obregon, Maria Gabriela; Conti, Emanuela; Esposito, Giorgia; Mingarelli, Rita; Pizzuti, Antonio; Dallapiccola, Bruno.

In: European Journal of Human Genetics, Vol. 12, No. 12, 12.2004, p. 1069-1072.

Research output: Contribution to journalArticle

Sarkozy, Anna ; Obregon, Maria Gabriela ; Conti, Emanuela ; Esposito, Giorgia ; Mingarelli, Rita ; Pizzuti, Antonio ; Dallapiccola, Bruno. / A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. In: European Journal of Human Genetics. 2004 ; Vol. 12, No. 12. pp. 1069-1072.
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