Related Experiment Videos
[PTPN11 gene mutation in LEOPARD syndrome].
M Paradisi1, C Pedicelli, A Ciasulli
1Sezione di Dermatologia Pediatrica, Istituto Dermopatico dell'Immacolata (IDI), Rome. m.paradisi@idi.it
Minerva Pediatrica
|September 21, 2005
Summary
Multiple Lentigines/LEOPARD syndrome (ML/LS) is a rare genetic disorder. A PTPN11 gene mutation, TYR279CYS, was identified in a patient with ML/LS, linking it to Noonan syndrome.
Area of Science:
- Genetics
- Molecular Biology
- Cardiology
Background:
- Multiple Lentigines/LEOPARD syndrome (ML/LS) is a rare autosomal dominant disorder.
- Key features include growth retardation, lentigines, congenital heart disease, and facial dysmorphia.
- ML/LS shares clinical overlap with Noonan syndrome (NS), both linked to PTPN11 gene mutations.
Observation:
- A 3-year-old girl presented with widespread lentigines, a heart murmur, and growth retardation.
- ML/LS was diagnosed based on clinical presentation.
- Molecular analysis was performed to investigate the genetic basis.
Findings:
- Direct sequencing of the PTPN11 gene revealed a missense mutation (A836G) in exon 7.
- The specific mutation identified was TYR279CYS.
- This mutation has been previously associated with both ML/LS and Noonan syndrome.
Implications:
- This case highlights the genetic link between ML/LS and Noonan syndrome via PTPN11 mutations.
- The TYR279CYS mutation provides further insight into the molecular mechanisms of these related disorders.
- Understanding these genetic connections aids in diagnosis and potential therapeutic strategies.