Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy
| Autor: | Giuseppe Limongelli, Marta Rubino, Anna Pierno, Adelaide Fusco, Martina Caiazza, Roberta Pacileo, Emanuele Monda, Eloisa Evangelista, Federica De Fazio, Giuseppe Pacileo, Annapaola Cirillo, Maria Giovanna Russo, Augusto Esposito, Annalisa Passariello |
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| Přispěvatelé: | Caiazza, M., Rubino, M., Monda, E., Passariello, A., Fusco, A., Cirillo, A., Esposito, A., Pierno, A., De Fazio, F., Pacileo, R., Evangelista, E., Pacileo, G., Russo, M. G., Limongelli, G. |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
lcsh:QH426-470 Case Report macromolecular substances 030204 cardiovascular system & hematology Gene mutation Compound heterozygosity 03 medical and health sciences 0302 clinical medicine Genetics medicine Noonan syndrome cardiovascular diseases Genetics (clinical) Genetic testing Phenocopy medicine.diagnostic_test business.industry Hypertrophic cardiomyopathy double mutations medicine.disease hypertrophic cardiomyopathy Double mutation PTPN11 lcsh:Genetics 030104 developmental biology Mutation (genetic algorithm) cardiovascular system business |
| Zdroj: | Genes, Vol 11, Iss 947, p 947 (2020) Genes |
| ISSN: | 2073-4425 |
| Popis: | In this report, an atypical case of Noonan syndrome (NS) associated with sarcomeric hypertrophic cardiomyopathy (HCM) in a 33-year-old patient was described. Genetic testing revealed two different disease-causing mutations: a mutation in the PTPN11 gene, explaining NS, and a mutation in the MYBPC3 gene, known to be associated with HCM. This case exemplifies the challenge in achieving a definite etiological diagnosis in patients with HCM and the need to exclude other diseases mimicking this condition (genocopies or phenocopies). Compound heterozygous mutations are rare but possible in HCM patients. In conclusion, this study highlights the important role of genetic testing as a necessary diagnostic tool for performing a definitive etiological diagnosis of HCM. |
| Databáze: | OpenAIRE |
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