Table 1

Genotypes of Usher syndrome type 1 probands (novel variants are in bold)

Family	Gene	Allele 1^*	Allele 2^*	Allele 1score	Allele 2 score	Ethnicity^†
107	CDH23	c.6712+1G>A	Unknown	Pathogenic		Caucasian
140^‡	CDH23	p.Arg2107X	p.Arg2107X	Pathogenic	Pathogenic	Pakistani (Sindi)
163	CDH23	p.Arg2107X	p.Leu2436ThrfsX3	Pathogenic	Pathogenic	Caucasian
407	CDH23	c.2177-2A>G	P.Leu3041Pro	Pathogenic	UV4	Caucasian
555	CDH23	c.7362G>A ^§	c.6254_6254-3delCAGGinsT	UV3	Pathogenic	Caucasian
168^‡	CDH23 ^¶	Unknown^¶	Unknown^¶			Turkish Cypriot
30	MYO7A	p.Lys1255ArgfsX8	p.Ala26Glu^**	Pathogenic	Pathogenic	Caucasian
146	MYO7A	p.Lys1255ArgfsX8	p.Asp521GlufsX8	Pathogenic	Pathogenic	Caucasian
444	MYO7A	p.Lys1255ArgfsX8	p.Lys542GlnfsX5	Pathogenic	Pathogenic	Caucasian
68	MYO7A	p.Gly214Arg	p.Arg212His	Pathogenic	Pathogenic	Caucasian
100	MYO7A	c.3108+1G>A	c.3108+1G>A	Pathogenic	Pathogenic	Indian
111	MYO7A	p.Arg669X	c.5944G>A^††	Pathogenic	Pathogenic	Caucasian
132	MYO7A	p.Arg972X	p.Arg972X	Pathogenic	Pathogenic	Iranian
93	MYO7A	c.3504-1G>C^**	p.Leu1858Pro	Pathogenic	Pathogenic	Caucasian
262	MYO7A	p.Asp1613ValfsX32	p.Lys420X	Pathogenic	Pathogenic	Caucasian
287	MYO7A	p.Gly1942X	p.Gly25Arg	Pathogenic	Pathogenic	Caucasian
435	MYO7A	p.Arg1240Gln	c.133-2A>G	Pathogenic	Pathogenic	Caucasian
578	MYO7A	p.Arg669X	p.Lys542GlnfsX5	Pathogenic	Pathogenic	Caucasian
731	MYO7A	p.Ala2009ProfsX32	c.-48A>G ^‡‡	Pathogenic	Pathogenic	Caucasian
732	MYO7A	p.Glu117SerfsX33	c.592+1G>T	Pathogenic	Pathogenic	Caucasian
516	MYO7A	p.Gly1378TrpfsX6	p.Glu968Asp	Pathogenic	UV4	Caucasian
69	MYO7A	p.Arg241Pro	c.5944G>A^††	UV4	Pathogenic	Caucasian
35	MYO7A	p.Arg2024X	p.Asp75His	Pathogenic	UV4	Caucasian
79	MYO7A	p.Arg1240Gln	p.Leu2193Phe	Pathogenic	UV4	Caucasian
257	MYO7A	p.Cys31X	p.Arg1883Gln	Pathogenic	UV4	Asian
706^‡	MYO7A	p.Phe1963del	p.Phe1963del	UV4	UV4	Black African (Ghana)
182	MYO7A	p.Pro2126LeufsX5	p.Arg1240Trp	Pathogenic	UV3	Caucasian
500	MYO7A	p.Trp1431X	p.Ala826Thr^§§	Pathogenic	UV4	Caucasian
692	MYO7A	p.Arg212His	c.1798-3C>G	Pathogenic	UV2	Caucasian
676	MYO7A	p.Arg241Pro	p.Glu380Lys	UV4	UV2	Caucasian
42	MYO7A	p.Arg1701X	Unknown	Pathogenic		Turkish Cypriot
104^‡	MYO7A ^¶¶	Unknown^¶¶	Unknown^¶¶			Caucasian
206^‡	MYO7A ^¶¶	p.Tyr2015His	p.Tyr2015His	UV2	UV2	Caucasian
705	MYO7A	c.1793-3C>G	Unknown	UV2		Greek Cypriot
291^‡	PCDH15	p.Gly942ValfsX22	p.Gly942ValfsX22	Pathogenic	Pathogenic	South Pacific
313	PCDH15	c.3717+1G>A	Exon 9-18 deleted ^***	Pathogenic	Pathogenic	Caucasian
399^‡	PCDH15	c.3501+2T>C	c.3501+2T>C	Pathogenic	Pathogenic	Caucasian
119	PCDH15	Exon 10 deleted ^†††	Exon 10 deleted ^†††	Pathogenic	Pathogenic	Caucasian
87	USHIC	p.Arg80ProfsX69	c.496+1G>A	Pathogenic	Pathogenic	Caucasian
461	USHIC	p.Arg80ProfsX69	p.Arg80ProfsX69	Pathogenic	Pathogenic	Jewish
4 families	USHIC	c.496+1G>A	c.496+1G>A	Pathogenic	Pathogenic	Caucasian
530^‡	USHIC	p.Glu149del	p.Glu149del	Pathogenic	Pathogenic	Indian
129, 340	Unknown					Caucasian

↵* Unless stated otherwise, the alleles were not observed in control chromosomes.
↵† Caucasian: UK and European.
↵‡ Consanguineous family.
↵§ Last nucleotide of exon (possibly affects splicing).
↵¶ See supplemental figure 1.
↵** Found in 1/872 (0.11%) control chromosomes.
↵†† Last nucleotide of exon; causes MYO7A:p.Val1953GlufsX12.23
↵‡‡ IVS1-2A>G.
↵§§ Found in 2/826 (0.23%) control chromosomes (both heterozygotes are Pakistani controls).
↵¶¶ Consanguineous family demonstrating linkage to Usher type1 genes. The causative mutations were either not found or were of uncertain pathogenicity (UV2).
↵*** See supplemental figure 2. Deletion of PCDH15 exons 9–18 was confirmed by MLPA.
↵††† A homozygous deletion of PCDH15 exon 10 was confirmed by MLPA. The family is not knowingly consanguineous.
MLPA, multiplex ligation dependent probe amplification; UV unclassified variant.