Table 1

Reported allele variants of COL11A2

Type of mutation		Mutation				Predicted consequence		Phenotype		Inheritance		Proposed mechanism of action		Reference
Type of mutation		Homozygous		Heterozygous		Predicted consequence		Phenotype		Inheritance		Proposed mechanism of action		Reference
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