Table 2

Genetic findings and correlations to patient characteristics

CharacteristicSDHD gene alterationPa
All missense (N = 32)D92Y (N = 22)L95P (N = 9)No alteration (N = 25)
Patient [no. (%)]
 Sex0.38
  Male (n = 21)141047
  Female (n = 36)1812518
 Mean age of onset ± SE (yrs)40.3± 11.438.6± 9.944.8± 14.144.9± 14.20.21
Tumor focality [no (%)]0.0001
 Single PGL (n = 30)85322
 Bilateral carotid body (n = 10)9721
 Multiple (n = 17)15b1042
Family history [no. (%)]<0.0001
 Positive (n = 19)19b135
  Single PGL (n = 2)22
  Bilateral carotid body (n = 7)761
  Multiple (n = 10)10b72
 Negative (n = 38)139425
  Single PGL (n = 28)65122
   Recurrence4313
  Bilateral carotid body (n = 3)2111
  Multiple (n = 7)5322
  • a The Ps resulted from χ2 tests to compare all variables except mean age of onset, for which we used an unpaired t test. All Ps are for the differences between patients with and without a missense mutation.

  • b Includes the patient harboring the L139P mutation.