Skip to main content

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)