Table 4

Comparison of clinical features reported in COACH patients: our cohort versus all patients in the literature versus COACH patients with and without known MKS3 mutations

This workLiteratureKnown MKS3 mutationsNo known MKS3 mutations
Liver complications21% (5/24)40% (16/40)22% (7/32)47% (15/32)
Coloboma71% (17/24)64% (25/39)66% (21/32)68% (21/31)
Renal disease46% (12/26)77% (33/43)39% (13/33)88% (30/34)
Renal complications8% (2/24)22% (9/40)12% (4/32)22% (7/32)
Encephalocele4% (1/26)7% (3/42)6% (2/33)3% (1/33)
Ptosis25% (6/24)18% (7/40)16% (5/32)25% (8/32)
Polydactyly0% (0/24)5% (2/43)3% (1/33)3% (1/34)
  • Liver complications included porto-systemic shunt, transplantation and death, while renal complications included transplantation, dialysis and death. The denominators differ in some cases because liver complications, coloboma, renal complications and ptosis were not scored in all cases, particularly in fetuses.