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Table 1 Demographic and clinical data of patients with germline variants in genes associated with telomere biology disorders

From: Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Patient Sex Age Gene variant Family history Skin, nail anomalies Hair graying/ loss Oral mucosal changes Aplastic anemia/ cytopenias Immuno-deficiency Pulmonary fibrosis Infertility Gastro-intestinal problems Developmental defects Relative telomere lengtha
P1.1 M 24 DKC1 + + + + NA short
P1.2 M 28 DKC1 + + + + NA short
P2 F 11 TERT + NA + + short
P3 M 2 RTEL1 + + NA + + short
  1. Abbreviations: F, female; M, male; +, feature present; −, feature absent; NA, not available
  2. aCompared to 113 healthy controls (age 0–83 years)