A Case Series of TERC Variant Telomere Biology Disorders in Unrelated Families From Atlantic Canada.
| Autor: | Harrigan AM; Department of Medicine, Queen Elizabeth II Health Science Centre, Halifax, NS, Canada., MacDonald S; Maritime Medical Genetics Service, IWK Health, Halifax, NS, Canada., Crooks B; Division of Pediatric Hematology and Oncology, IWK Health, Halifax, NS, Canada., Dyack S; Maritime Medical Genetics Service, IWK Health, Halifax, NS, Canada.; Division of Pediatric Medical Genetics, IWK Health, Halifax, NS, Canada., Trottier AM; Department of Medicine, Queen Elizabeth II Health Science Centre, Halifax, NS, Canada.; Division of Hematology, Queen Elizabeth II Health Science Centre, Halifax, NS, Canada. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of hematology [J Hematol] 2021 Jun; Vol. 10 (3), pp. 130-135. Date of Electronic Publication: 2021 Jun 16. |
| DOI: | 10.14740/jh826 |
| Abstrakt: | TERC variant telomere biology disorders (TBDs) are a rare, heterogenous group of disorders that arise from germline variants in TERC , a gene that encodes for the RNA component of telomerase. Variants in TERC lead to accelerated telomere attrition and can manifest as many different phenotypes. In this case series, we aimed to add to the literature describing TERC variant TBDs by reporting cases from two unrelated families from Atlantic Canada. The first case, a previously described germline TERC variant, n.107G>T (NR_001566.1), was identified in a young woman with myelodysplastic syndrome (MDS) and found to segregate with cytopenias in the family. This case represents a unique phenotypic presentation: this variant has not previously been described in patients with MDS and adds important segregation data to the literature. The second case, a novel TERC n.437T>G variant, was identified in a patient with both aplastic anemia and pulmonary fibrosis manifesting in his early 30s. We report these novel cases of germline TERC variants in order to help clinicians recognize TBDs, as well as to add important supporting information for the pathogenicity of these variants. Competing Interests: The authors of this case series do not have any conflict of interest to disclose. (Copyright 2021, Harrigan et al.) |
| Databáze: | MEDLINE |
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