Table 1
Reported allele variants of COL11A2
| Type of mutation | Mutation | Predicted consequence | Phenotype | Inheritance | Proposed mechanism of action | Reference | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Homozygous | Heterozygous | |||||||||||||
| 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 | 732delC | Frameshift/stop in exon 6 | OSMED | Recessive | Functionally null allele secondary to protein truncation or non-sense mRNA decay | 12 | ||||||||
| 2492C→A | S831X(345) | OSMED | Recessive | 12 | ||||||||||
| 2406_2409del, 2405_2410ins9bp | Frameshift/stop in exon 32 | OSMED | Recessive | 12 | ||||||||||
| 3991C→T | R1331X (845) | OSMED | Recessive | 10 | ||||||||||
| 4821_4843del | Frameshift/stop in exon 64 | OSMED | Recessive | 12 | ||||||||||
| 1636C→T and IVS22-2 A→G* | R546X (60) and in-frame deletion of exon 23 | OSMED | Recessive | 12 | ||||||||||
| 3032_3033insC and 4750G→T* | Frameshift/stop in exon 43 and G1584X (1098) | OSMED | Recessive | 12 | ||||||||||
| 3991C→T and IVS53+5G→A* | R1331X (845) and frameshift/stop in exon 56 | OSMED | Recessive | 12 | ||||||||||
| 529C→T‡ | R177X | Non-syndromic cleft palate | ‡ | 19 | ||||||||||
| In-frame deletion | 2775_2801del | In-frame deletion of 27 bp in exon 39 | Non-ocular Stickler | Dominant | Functional allele with dominant-negative effect on collagen folding | 13 | ||||||||
| 4135C→T | In-frame deletion of exon 57 | Non-ocular Stickler | Dominant | 11 | ||||||||||
| IVS60-1G→A | In-frame deletion of exon 60 | Non-ocular Stickler | Dominant | 15 | ||||||||||
| Missense mutation | 1861C→A† | P621T | Non-syndromic hearing loss | Recessive | Functional allele with recessive-negative effect on collagen folding | |||||||||
| 1982G→A | G661R (175) | OSMED | Recessive | 15 | ||||||||||
| 2423G→A | G808E (323) | Non-syndromic hearing loss | Dominant | Functional allele with dominant-negative effect on collagen folding | 4 | |||||||||
| 3100C→T | R1034C (549) | Non-syndromic hearing loss | Dominant | 4 | ||||||||||
| 4322G→A | G1441E (955) | WZS/non-ocular Stickler | Dominant | 14 | ||||||||||
