Table 1

Mutation spectrum in Stickler syndrome

PhenotypeGeneMutationEffectRefs
Stickler syndrome1-150 COL2A1Ins 10bp, exon 4Frameshift 53
Stickler syndrome1-150 COL2A1Arg9Ter, exon 7Nonsense mutation 54
Stickler syndrome1-150 1-151 COL2A1A–2 →G, IVS17Aberrant splicing, frameshift 55
Stickler syndrome1-150 COL2A1Del A, exon 20Frameshift 53
Stickler syndrome1-150 COL2A1Arg704Cys, exon 39Missense mutation 23
Stickler syndrome1-150 COL2A1Arg732Ter, exon 40Nonsense mutation 56
Stickler syndrome1-150 COL2A1Del T, exon 40Frameshift 57
Stickler syndrome1-150 COL2A1Del T, exon 43Frameshift 58
Stickler syndrome1-150 COL2A1Ins G, exon 48Frameshift 53
Stickler syndrome1-150 COL2A1Del C, exon 50Frameshift 59
Stickler syndrome with type 2 vitreousCOL11A1Del 1bp, acceptor splice siteAberrant splicing, in frame exon skip 26
Stickler syndrome with type 2 vitreousCOL11A1Gly97ValMissense mutation 25
Stickler syndrome with type 2 vitreousCOL11A1Del 40kb (multiple exons)Large in frame deletion26

  • ↵1-150 Families with COL2A1 mutations are likely to have the type 1 vitreous phenotype (see text).

  • ↵1-151 Original family reported by Stickler et al.1 2