Table 2

Phenotypes resulting from COL2A1 exon 2 mutations. Clinical manifestations were scored as 0 absent, 1 mild, 2 moderate, and 3 severe, except for retinal detachment, which was scored 1 single eye or 2 both eyes

FamilyOcular phenotypeArticular phenotypeAural phenotypeOro-facial phenotype
MyopiaRetinal detachmentJoint hypermobilityRadiological joint abnormalityConductive lossSensoineural lossMidfacial hypoplasiaAbnormal nasal developmentMidline clefting
Ms11
 I-2020ND02000
 II-2320000000
 II-5320000000
 III-1321001000
 III-4301000000
MS13
 I-1320000000
 II-1310011000
 II-23NA0021003
 II-41NA0000000
 II-6010ND0ND100
MS62
 II-1020001100
 II-3020100000
 III-2020000102
 III-3300011203
 III-5220000200
 III-6210001100
Mean score1.81.50.10.10.20.50.500.5
  • NA = not applicable because of prophylactic treatment. ND = not determined.