Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant
| Autor: | Mariana Aracena, Diana Ponce, Fernando Cassorla, Nancy Unanue, Francisco Garay, Carla Vallejos, Fernando Rodríguez, Victor M. Bolanos-Garcia |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
MAPK/ERK pathway Genetic heterogeneity business.industry Hypertrophic cardiomyopathy RASopathy medicine.disease Bioinformatics medicine.disease_cause Cardiofaciocutaneous syndrome Short stature 03 medical and health sciences 030104 developmental biology Pediatrics Perinatology and Child Health medicine Noonan syndrome KRAS medicine.symptom business Genetics (clinical) |
| Zdroj: | Journal of Pediatric Genetics. :158-163 |
| ISSN: | 2146-460X 2146-4596 |
| DOI: | 10.1055/s-0038-1653977 |
| Popis: | We report the case of a 3-year-old girl, who is the third child of nonconsanguineous parents, with short stature, hypertrophic cardiomyopathy, and mild dysmorphic features; all suggestive of Noonan syndrome. In addition, the patient presents with feeding difficulties, deep palmar and plantar creases, sparse hair, and delayed psychomotor and language development, all characteristics frequently observed in cardiofaciocutaneous syndrome. Molecular analysis of the Ras/ MAPK pathway genes using high-resolution melting curve analysis and gene sequencing revealed a de novo KRAS amino acid substitution of leucine to tryptophan at codon 53 (p.L53W). This substitution was recently described in an Iranian patient with Noonan syndrome. The findings described in this report expand the phenotypic heterogeneity observed in RASopathy patients harboring a KRAS substitution, and advocate for the inclusion of genes with low mutational frequency in genetic screening protocols for Noonan syndrome and other RASopathies. |
| Databáze: | OpenAIRE |
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