A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature
Abstract
1. Introduction
2. Case Presentation
3. Discussion
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Feature | Patient Female, Born 2001 |
---|---|
Clinical onset of anemia | At ten weeks of age |
Heart anomalies | Ventricular septal defect, spontaneous closure at 5 years of age |
Facial anomalies | Hypertelorism, relative macrocephaly, lateral cleft lip |
Growth anomalies | 145 cm after prepubescent growth hormone treatment without corticosteroids |
Limb anomalies | Polysyndactyly of the thumb |
Adenosine deaminase | Elevated |
Steroid responsive | Yes (first trial at 21, second trial at 22 years) |
Bone marrow histology | (Atypical for DBA)—normal cellularity according to age but CD4-lymphocytosis (60% of cellularity), dysplastic megakaryopoiesis, reduced erythropoiesis and myeloid line |
Genetics | RPL5 c.392dup, p.(Asn131Lysfs*6) No somatic myeloid mutations * |
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Dorenkamp, M.; Porret, N.; Diepold, M.; Rovó, A. A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature. Medicina 2023, 59, 1953. https://doi.org/10.3390/medicina59111953
Dorenkamp M, Porret N, Diepold M, Rovó A. A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature. Medicina. 2023; 59(11):1953. https://doi.org/10.3390/medicina59111953
Chicago/Turabian StyleDorenkamp, Moritz, Naomi Porret, Miriam Diepold, and Alicia Rovó. 2023. "A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature" Medicina 59, no. 11: 1953. https://doi.org/10.3390/medicina59111953
APA StyleDorenkamp, M., Porret, N., Diepold, M., & Rovó, A. (2023). A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature. Medicina, 59(11), 1953. https://doi.org/10.3390/medicina59111953