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 language | English |
|---|---|
| Pages (from-to) | 1069-1072 |
| Number of pages | 4 |
| Journal | European Journal of Human Genetics |
| Volume | 12 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - Dec 2004 |
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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 journal › Article
}
TY - JOUR
T1 - A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome
AU - Sarkozy, Anna
AU - Obregon, Maria Gabriela
AU - Conti, Emanuela
AU - Esposito, Giorgia
AU - Mingarelli, Rita
AU - Pizzuti, Antonio
AU - Dallapiccola, Bruno
PY - 2004/12
Y1 - 2004/12
N2 - 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.
AB - 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.
KW - Multiple giant cell lesions
KW - Noonan syndrome
KW - PTPN11
UR - http://www.scopus.com/inward/record.url?scp=10044231501&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=10044231501&partnerID=8YFLogxK
U2 - 10.1038/sj.ejhg.5201290
DO - 10.1038/sj.ejhg.5201290
M3 - Article
C2 - 15470362
AN - SCOPUS:10044231501
VL - 12
SP - 1069
EP - 1072
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 12
ER -