NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Patient | Age at Diagnosis | Sex | Hb (g/L), Hct (%), RBC (T/L) | EV/PV Test | EPO (mU/mL) | Gene | Accession-Nr. | Variant | dbSNP ID | Zygosity | Inheritance | ACMG Classification |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 32 | M | 181, 54, 5.88 | Absolute erythrocytosis | 16.4 (normal) | EPO | NM_000799.4 | c.*656G>A | rs1186897562 | het | AD | VUS (PM2, BP7) |
2 | 34 | M | 195, 57, 5.89 | Absolute erythrocytosis | 8.45 (normal) | EGLN1 | NM_022051.2 | c.1088T>G p.(Leu363Arg) | N/A | het | AD | Likely pathogenic (PM1, PM2, PP2, PP3) |
3 | 80 | M | 207, 60, NA | NA | 7.6 (normal) | EGLN1 | NM_022051.3 | c.122_124delACT, p.(Tyr41del) | rs1182227189 | het | AD | Likely pathogenic (PM1, PM2, PM4) |
4 | 20 | M | 192, 56, 6.48 | Absolute erythrocytosis | 6.6 (normal) | VHL | NM_000551.4 | c.340+648T>C | rs73024533 | het | AR/AD | VUS (PM2) |
5 | 22 | M | 170, 48, 5.48 | NA | 11.09 (normal) | EPAS1 | NM_001430.5 | c.466G>T, p.(Gly156Trp) | rs377257704 | het | AD | VUS (PM2, PP3) |
JAK2 | NM_004972.4 | c.1711G>A, p.(Gly571Ser) | rs139504737 | het | AD/somatic | VUS (PM2, PP3, BS3) | ||||||
6 | 27 | M | 174, 47, 5.54 | Absolute erythrocytosis | 6.06 (normal) | JAK2 | NM_004972.4 | c.1169C>T, p.(Pro390Leu) | rs768074072 | het | AD/somatic | VUS (PM2, PP3) |
SH2B3 | NM_005475.3 | c.107C>A, p.(Ala36Glu) | rs574829930 | het | AD/somatic | VUS (PM2) |
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Jalowiec, K.A.; Vrotniakaite-Bajerciene, K.; Capraru, A.; Wojtovicova, T.; Joncourt, R.; Rovó, A.; Porret, N.A. NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients. Genes 2021, 12, 1951. https://doi.org/10.3390/genes12121951
Jalowiec KA, Vrotniakaite-Bajerciene K, Capraru A, Wojtovicova T, Joncourt R, Rovó A, Porret NA. NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients. Genes. 2021; 12(12):1951. https://doi.org/10.3390/genes12121951
Chicago/Turabian StyleJalowiec, Katarzyna Aleksandra, Kristina Vrotniakaite-Bajerciene, Annina Capraru, Tatiana Wojtovicova, Raphael Joncourt, Alicia Rovó, and Naomi A. Porret. 2021. "NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients" Genes 12, no. 12: 1951. https://doi.org/10.3390/genes12121951