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

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

Keywords

  • Multiple giant cell lesions
  • Noonan syndrome
  • PTPN11

ASJC Scopus subject areas

  • Genetics(clinical)

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