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Home > Journals > Minerva Pediatrica > Past Issues > Minerva Pediatrica 2005 August;57(4) > Minerva Pediatrica 2005 August;57(4):189-94



A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry

Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,532

Frequency: Bi-Monthly

ISSN 0026-4946

Online ISSN 1827-1715


Minerva Pediatrica 2005 August;57(4):189-94


PTPN11 gene mutation in LEOPARD syndrome

Paradisi M., Pedicelli C., Ciasulli A., Pinto F., Conti E., Sarkozy A., Angelo C.

The multiple lentigines/LEOPARD syndrome (ML/LS) is a rare and complex genetic syndrome. It is an autosomal dominant disorder with a variable expressivity. The syndrome is mainly characterised by growth retardation, multiple lentigines, and congenital heart diseases with electrocardiographic anomalies, dysmorphia of the face and deafness. The incidence of this pathology is still unknown and a familial inheritance is present in 70% of cases. Some of the ML/LS clinical features are the same as those of the Noonan syndrome (NS), such as congenital cardiac abnormalities, dysmorphia and growth retardation. NS and ML/LS are caused by allele mutations of the PTPN11 gene. We report the case of a 3-year-oldgirl, who was observed for the presence of widespread lentigines, a 1/6-protosystolic murmur at the mesocardium and growth retardation. The diagnosis of ML/LS was made and thus a molecular analysis of the PTPN11 gene was carried out, directly sequencing the codifying region. The molecular analysis revealed a missense mutation (A836G) in hexone 7 (TYR279CYS) of the PTPNII gene. This mutation is has been observed, at present, in a few cases of ML/LS and Noonan syndrome.

language: Italian


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