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- Title
Coexisting PTPN11 and TNNT2 mutations in noonan syndrome with multiple lentigines.
- Authors
Liu, H; Han, X; Chu, S; Ma, W; Ding, W; Li, J; Jiang, Y
- Abstract
This article discusses a case study of a 52-year-old female patient with Noonan Syndrome with Multiple Lentigines (NSML), a subtype of Noonan Syndrome characterized by cutaneous manifestations. The patient exhibited lentigines on her face, abdomen, and upper arms, along with specific facial characteristics. She also experienced symptoms of heart failure, including palpitations and shortness of breath. Genetic analysis revealed mutations in both the PTPN11 gene associated with NSML and the TNNT2 gene associated with hypertrophic cardiomyopathy. The study suggests that the combination of these mutations may enhance myocardial expression and lead to an accelerated onset of cardiac dysfunction. Further research is needed to understand the effects of coexisting gene mutations in this case.
- Subjects
NOONAN syndrome; LENTIGO; HEART failure; TAKOTSUBO cardiomyopathy; GENETIC mutation; CORONARY circulation; GENE expression
- Publication
QJM: An International Journal of Medicine, 2024, Vol 117, Issue 6, p460
- ISSN
1460-2725
- Publication type
Article
- DOI
10.1093/qjmed/hcae029