Table 1

 Reported allele variants of COL11A2

Type of mutationMutationPredicted consequencePhenotypeInheritanceProposed mechanism of actionReference
Mutation positions are assigned according to collagen α2(XI) chain precursor (UniProt P13942); numbers in parenthesis are used in previous studies.
*Compound heterozygotes.
†Mutation identified in this study.
‡Reported in the heterozygous state in a person with non-syndromic cleft palate deformity; the father of the proband also carries R177X but has no cleft palate deformity, suggesting either variable penetrance or another aetiology for the isolated non-syndromic cleft palate deformity in this family.
OSMED, otospondylomegaepiphyseal dysplasia; WZS, Weissenbacher–Zweymuller syndrome (similar to non-ocular Stickler syndrome).
Nonsense mutation or frameshift stop 732delCFrameshift/stop in exon 6OSMEDRecessiveFunctionally null allele secondary to protein truncation or non-sense mRNA decay12
2406_2409del, 2405_2410ins9bpFrameshift/stop in exon 32OSMEDRecessive12
3991C→TR1331X (845)OSMEDRecessive10
4821_4843delFrameshift/stop in exon 64OSMEDRecessive12
1636C→T and IVS22-2 A→G*R546X (60) and in-frame deletion of exon 23OSMEDRecessive12
3032_3033insC and 4750G→T*Frameshift/stop in exon 43 and G1584X (1098)OSMEDRecessive12
3991C→T and IVS53+5G→A*R1331X (845) and frameshift/stop in exon 56OSMEDRecessive12
529C→T‡R177XNon-syndromic cleft palate19
In-frame deletion 2775_2801delIn-frame deletion of 27 bp in exon 39Non-ocular SticklerDominantFunctional allele with dominant-negative effect on collagen folding13
4135C→TIn-frame deletion of exon 57Non-ocular SticklerDominant11
IVS60-1G→AIn-frame deletion of exon 60Non-ocular SticklerDominant15
Missense mutation 1861C→A†P621TNon-syndromic hearing lossRecessiveFunctional allele with recessive-negative effect on collagen folding
1982G→AG661R (175)OSMEDRecessive15
2423G→AG808E (323)Non-syndromic hearing lossDominantFunctional allele with dominant-negative effect on collagen folding4
3100C→TR1034C (549)Non-syndromic hearing lossDominant4
4322G→AG1441E (955)WZS/non-ocular SticklerDominant14