Table 1

Clinical characteristics of the affected offspring

Patients (n)Patients (n)
Overall372Onset
Unrelated families118 Affected317 (85.5%)
Sex Unaffected55 (14.5%)
 Male214 (57.5%)Onset age
 Female158 (42.5%) ≤28 years172 (54.4%)
Mutation type >28 years145 (45.6%)
 Missense187 (50.3%)First lesion
 Truncating185 (49.7%) CHB129 (40.7%)
VHL classification type RA40 (12.7%)
 Type 1322 (86.6%) RCC28 (8.8%)
 Type 250 (13.4%) PHEO16 (5.0%)
Mutation region PCL26 (8.2%)
 Exon 1162 (43.6%) GS14 (4.4%)
 Exon 248 (12.9%) SO64 (20.2%)
 Exon 386 (23.1%) CNS or abdomen29
 Other76 (20.4%) CNS and abdomen35
GenerationDeath and cause
 2249 (66.9%) CHB47 (75.8%)
 3109 (29.3%) RCC11 (17.7%)
 414 (3.8%) Others4 (6.5%)
  • CHB, central nervous system haemangioblastoma; CNS, central nervous system; GS, genital system (epididymis or broad ligament); PCL, pancreatic cystic lesion; PHEO, pheochromocytoma; RA, retinal haemangioblastoma; RCC, renal cell carcinoma; SO, simultaneous onset; VHL, von Hippel-Lindau.