PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
We describe the "LEOPARD syndrome (LS) phenotype" associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of the mitral valve, facial anomalies, café-au-lait spots and multiple lentigines.
Digilio
M Cristina
MC
Medical Genetics, Bambino Gesù Hospital, Rome, Italy, digilio@opbg.net.
Sarkozy
Anna
A
Pacileo
Giuseppe
G
Limongelli
Giuseppe
G
Marino
Bruno
B
Dallapiccola
Bruno
B
D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D044542:LEOPARD Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D011296:Prenatal Diagnosis; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases