Supplementary Figure 3 from Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study
journal contribution
posted on 2025-07-15, 07:23 authored by Bianca Tesi, Anna Robelius, Berivan Baskin, Vladimir Lazarevic, Stefan Deneberg, Martin Höglund, Linda Fogelstrand, Johanna Ungerstedt, Tatjana Pandzic, Magnus Tobiasson, Hege Gravdahl Garelius, Ekaterina Kuchinskaya, Fredrik Persson, Helena Ågerstam, Helene Hallböök, Thoas Fioretos, Jessika Nordin, Anna Norberg, Ann-Charlotte Thuresson, Sören Lehmann, Claes Ladenvall, Gisela Barbany, Lovisa Vennström, Elisabeth Ejerblad, Lucia Cavelier, Jörg Cammenga, Martin Jädersten, Eva Hellström-Lindberg, Panagiotis Baliakas<p>Supplementary Figure 3. Pedigrees and Relative telomere length (TL) in two patients with a missense VUS in TERT measured by qPCR in peripheral blood leukocytes as previously described.1 The reference percentiles were determined from telomere length analysis of blood leukocytes from 283 healthy subjects (0–78 years of age). The curves shown depict the first, 10th, 50th, 90th, and 99th normal percentiles at each age, where the 50th percentile represents the mean. A) Patient GH01_P11 was included due to cytopenias, premature graying of hair, infections, skin hypomelanosis. The variant segregated in the mother, who did not show clinical signs of telomere biology disorders but displayed shorter TL. B) Patient GH01_P33 was included due to MDS, lung fibrosis, premature graying of hair. The family history was positive for lung fibrosis on paternal side and for leukemia and premature graying of hair on the maternal side. Segregation analysis in parental samples was not possible. Reference: 1. Norberg A, Rosén A, Raaschou-Jensen K, et al: Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. Eur J Hum Genet 26:858–867, 2018</p>
