PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?
Noonan syndrome (NS) is an autosomal dominant disorder characterized by multiple dysmorphic features and a broad spectrum of congenital heart defects. Specific mutations of the PTPN11 gene are associated with 50% of the NS cases and 90% of the multiple lentigines/LEOPARD syndrome (ML/LS) cases. These two allelic conditions have several overlapping clinical features. This study describes the association between the Gln510Glu mutation of the PTPN11 gene and lethal progressive hypertrophic cardiomyopathy (HCM) in a newborn with the NS phenotype. The findings confirm the intriguing relationship between site-specific mutations of the PTPN11 gene and rapidly progressive HCM.
Faienza
Maria Felicia
MF
Dipartimento di Biomedicina dell'Età Evolutiva, Università di Bari, 70100 Bari, Italy. mf.faienza@endobiomol.uniba.it
Giordani
Lucia
L
Ferraris
Marina
M
Bona
Gianni
G
Cavallo
Luciano
L
D000483:Alleles; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11