Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy.
Noonan syndrome
double mutations
hypertrophic cardiomyopathy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
17 08 2020
17 08 2020
Historique:
received:
26
06
2020
revised:
07
08
2020
accepted:
10
08
2020
entrez:
23
8
2020
pubmed:
23
8
2020
medline:
25
3
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32824488
pii: genes11080947
doi: 10.3390/genes11080947
pmc: PMC7463848
pii:
doi:
Substances chimiques
Carrier Proteins
0
myosin-binding protein C
0
PTPN11 protein, human
EC 3.1.3.48
Protein Tyrosine Phosphatase, Non-Receptor Type 11
EC 3.1.3.48
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
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