Family | USH type | Gene | Allele 1* | Allele 2* | Allele 1 score | Allele 2 score | Ethnicity† |
3 | 2 | USH2A | p.Glu767SerfsX21 | p.Arg4971X | P | P | Caucasian |
21 | 2 | USH2A | p.Glu767SerfsX21 | p.Arg626X | P | P | Caucasian |
26, 46 | 2 | USH2A | p.Glu2288X | Unknown | P | Caucasian | |
29 | 2 | USH2A | p.Arg4192His‡ | p.Arg4192His‡ | UV2 | UV2 | Caucasian (Italy) |
32 | 2 | USH2A | p.Glu767SerfsX21 | p.His308SerfsX16 | P | P | Caucasian |
38 | 2 | USH2A | p.Glu767SerfsX21 | p.Arg34X | P | P | Caucasian |
45 | 2 | USH2A | p.Glu767SerfsX21 | p.Ser1173X | P | P | Caucasian |
53§ | 2 | USH2A | p.Cys1452LeufsX25 | p.Cys1452LeufsX25 | P | P | Indian |
57 | 2 | USH2A | p.Glu767SerfsX21 | p.Cys536Arg | P | P | Caucasian |
61 | 2 | USH2A | p.Pro560LeufsX31 | p.Glu2265_Tyr2266del insAsp | P | P | Caucasian |
64 | 2 | USH2A | p.Trp1607X ¶ | p.Cys620Phe | P | P | Caucasian |
82 | 2 | USH2A | c.11047+1G>A | p.Cys3575Tyr | P | UV4 | Caucasian |
113 | 2 | USH2A | p.Cys982LeufsX2 | p.Trp3955X** | P | P | Arab |
147 | 2 | USH2A | p.Gln3959AsnfsX53 | p.Asn4762Ser | P | UV3 | Caucasian |
151 | 2 | USH2A | p.Gln1063SerfsX15 | Unknown | P | Caucasian | |
155 | 2 | USH2A | p.Glu767SerfsX21 | p.Arg1946X | P | P | Caucasian |
165 | 2 | USH2A | p.Glu767SerfsX21 | p.Trp2945X | P | P | Caucasian |
171 | 2 | USH2A | p.Glu767SerfsX21 | p.Lys4816X | P | P | Caucasian |
179 | 2 | USH2A | p.Arg1504LysfsX26 | p.Trp2744X | P | P | Caucasian |
187 | 2 | USH2A | p.Glu767SerfsX21 | p.Gln1063SerfsX15 | P | P | Caucasian |
192 | 2 | USH2A | p.Pro746Ala | c.7595-3C>G†† | UV4 | P | Caucasian |
193 | 2 | USH2A | p.His308SerfsX16 | c.9371+1G>C ¶ | P | P | Caucasian |
194 | 2 | USH2A | p.Thr4439Ile | p.Cys3267Arg | P | UV4 | Caucasian |
200 | 2 | USH2A | p.Glu767SerfsX21 | c.11390-1G>C | P | P | Caucasian |
203§ | 2 | USH2A | p.Cys870X | p.Cys870X | P | P | Turkish Cypriot |
205§ | 2 | USH2A | Unknown | Unknown | Indian | ||
212, 702 | 2 | USH2A | p.Glu767SerfsX21 | p.Cys419Phe | P | P | Caucasian |
215 | 2 | USH2A | p.Glu767SerfsX21 | p.Ala4153Thr ¶ | P | P | Caucasian |
219, 672 | 2 | USH2A | p.Glu767SerfsX21 | p.Ala1872LeufsX58 | P | P | Caucasian |
220 | 2 | USH2A | p.Arg3689X | p.Trp3521Arg | P | P | Caucasian |
221 | 2 | USH2A | Exon 47 deleted ‡‡ | Exon 47 deleted ‡‡ | P | P | Greek |
225 | 2 | USH2A | p.Asn346His | Unknown | P | Caucasian | |
239 | 2 | USH2A | p.Thr4809Ile | Unknown | P | Caucasian | |
247 | 2 | USH2A | p.Glu767SerfsX21 | p.Gln3959AsnfsX53 | P | P | Caucasian |
296 | 2 | USH2A | p.Glu767SerfsX21 | p.Gln675X | P | P | Caucasian |
314§ | 2 | USH2A | c.1841-2A>G | c.1841-2A>G | P | P | Caucasian |
321 | 2 | USH2A | p.Thr4439Ile | p.Asn346His | P | P | Caucasian |
332 | 2 | USH2A | p.Glu767SerfsX21 | p.Cys620Phe | P | P | Caucasian |
334, 386 | 2 | USH2A | p.Glu4458AspfsX3 | c.7595-3C>G†† | P | P | Caucasian |
345 | 2 | USH2A | p.Glu1492X | c.11047+1G>A | P | P | Caucasian |
347 | 2 | USH2A | p.Glu2288X | p.Gly268Arg | P | UV3 | Unknown |
355 | 2 | USH2A | p.Glu767SerfsX21 | p.Glu4458AspfsX3 | P | P | Caucasian |
359 | 2 | USH2A | p.Cys5153X | p.Trp3521Arg | P | P | Caucasian |
367, 17 | 2 | USH2A | p.Glu767SerfsX21 | p.Gln4541X | P | P | Caucasian |
369 | 2 | USH2A | p.Arg1504LysfsX26 | p.Glu767SerfsX21 | P | P | Caucasian |
374 | 2 | USH2A | p.Pro560LeufsX31 | p.His340Leu | P | UV3 | Caucasian |
377 | 2 | USH2A | p.Arg1777Trp | p.Asn2285Ser | UV3 | UV2 | Indian |
385 | 2 | USH2A | p.Glu3305ArgfsX41 | p.Asn346His | P | P | Caucasian |
387 | 2 | USH2A | p.Glu767SerfsX21 | p.Ile2754AsnfsX15 | P | P | Caucasian |
389 | 2 | USH2A | p.Glu767SerfsX21 | p.Tyr4801X | P | P | Caucasian |
394 | 2 | USH2A | p.Glu767SerfsX21 | p.Glu284AspfsX38 | P | P | Caucasian |
398 | 2 | USH2A | p.Gln675X | p.Gln4541X | P | P | Caucasian |
401 | 2 | USH2A | p.Glu767SerfsX21 | p.Glu2288X | P | P | Caucasian |
408§ | 2 | USH2A | p.Cys419Phe | p.Cys419Phe | P | P | Caucasian |
417 | 2 | USH2A | p.Glu767SerfsX21 | p.Thr4439Ile | P | P | Caucasian |
418 | 2 | USH2A | p.Arg63X | p.Arg1549X | P | P | Caucasian |
427 | 2 | USH2A | p.Cys1452LeufsX25 | Unknown | P | Afro-Caribbean | |
440 | 2 | USH2A | p.Cys620Phe | Unknown | P | Caucasian | |
455 | 2 | USH2A | p.Ser4377X | p.Cys419Phe | P | P | Caucasian |
490 | 2 | USH2A | p.Arg1281X | p.Met1280Ile | P | UV4 | Caucasian |
509 | 2 | USH2A | p.Glu767SerfsX21 | p.Trp4713X | P | P | Caucasian |
545 | 2 | USH2A | p.Glu767SerfsX21 | p.Leu1378Pro | P | UV4 | Caucasian |
546 | 2 | USH2A | p.Cys3281Phe | Unknown | UV2 | Caucasian | |
549 | 2 | USH2A | p.Gly4403ProfsX15 | p.Ser1588HisfsX5 | P | P | Caucasian/Philippino |
558§ | 2 | USH2A ‡ | p.Thr281Lys | p.Thr281Lys | UV2 | UV2 | Turkish Cypriot |
568 | 2 | USH2A | p.Gly4403ProfsX15 | Unknown | P | Caucasian | |
591 | 2 | USH2A | p.Asn346His | p.Trp3521Arg | P | P | Caucasian |
595 | 2 | USH2A | p.Glu767SerfsX21 | p.Trp3521Arg | P | P | Caucasian |
601 | 2 | USH2A | p.Glu767SerfsX21 | p.Ser1136Asn | P | UV4 | Caucasian |
611 | 2 | USH2A | p.Glu767SerfsX21 | c.651+1G>A | P | P | Caucasian |
620 | 2 | USH2A | p.Glu767SerfsX21 | p.Cys999LeufsX9 | P | P | Caucasian |
644 | 2 | USH2A | p.Asn1967TrpfsX5 | p.Arg1578Cys | P | UV4 | Caucasian |
648 | 2 | USH2A | p.Arg1504LysfsX26 | p.Cys419Phe | P | P | Caucasian |
651 | 2 | USH2A | p.Arg1946LeufsX22 | Unknown | P | Caucasian | |
657 | 2 | USH2A | p.Arg63X | Unknown | P | Caucasian | |
670 | 2 | USH2A | p.Gly1751Val | p.Gly2017Cys §§ | UV2 | UV2 | Indian |
680 | 2 | USH2A | p.Asn346His | p.Cys419Phe | P | P | Caucasian |
683§ | 2 | USH2A | Exons 50–55 deleted ‡‡ | Exons 50–55 deleted ‡‡ | P | P | Kashmiri |
5 fams | 2 | USH2A | p.Glu767SerfsX21 | p.Glu767SerfsX21 | P | P | Caucasian |
465 | 2 | USH2A | p.Glu767SerfsX21 | c.10585G>A§§ | P | UV3 | Caucasian |
432 | 2 | USH2A | p.Glu767SerfsX21 | c.12295-3T>A | P | UV2 | Indian |
531 | 2 | USH2A | p.Glu767SerfsX21 | p.Gly257Arg | P | UV2 | Unknown |
669 | 2 | USH2A | p.Glu767SerfsX21 | p.Phe1868Cys | P | UV2 | Unknown |
9 fams | 2 | USH2A | p.Glu767SerfsX21 | Unknown | P | Caucasian | |
136§ | 2 | GPR98 | Exon 83 deleted ¶¶ | Exon 83 deleted ¶¶ | P | P | Arab Palestinian |
170 | 2 | GPR98 | p.Arg2286X | p.Ser3339Asn | P | UV3 | Caucasian |
271 | 2 | GPR98 | p.Arg4802X | p.Ile3325Thr | P | UV2 | Caucasian |
275 | 2 | GPR98 | p.Asp1375His | Unknown | UV2 | Caucasian | |
300§ | 2 | GPR98 | p.Glu2103X | p.Gln2301X | P | P | Caucasian |
357 | 2 | GPR98 | p.Arg800X | c.13433G>T §§ | P | UV3 | Caucasian |
481 | 2 | GPR98 | p.Ser5048ArgfsX29 | p.Val2321AlafsX4 | P | P | Caucasian |
665 | 2 | GPR98 | p.Ala3579ValfsX6 | p.Val3363AspfsX11 | P | P | Caucasian |
697 | 2 | GPR98 | c.9623+1G>A | Unknown | P | Caucasian | |
222 | 2 | GPR98 *** | Unknown | Unknown | Indian | ||
110 | 2 | MYO7A | p.Gly1942X | Unknown | P | Caucasian | |
49 | 3 | CLRN1 | p.Ser50LeufsX12 | p.Ser50LeufsX12 | P | P | Caucasian |
82 | 3 | CLRN1 | p.Asn48Lys | p.Asn48Lys | P | P | Ashkenazi Jewish |
For family 29, USH2A haplotypes are not homozygous. It is possible they are p.Arg4192His hemizygous and have a deletion on the other allele.
↵* Unless stated otherwise, the alleles were not observed in control chromosomes.
↵† Caucasian: UK and European.
↵‡ Parental origin could not be determined. Patient and affected sib are homozygous for the mutation.
↵§ Consanguineous family.
↵¶ Found in 1/872 (0.11%) control chromosomes.
↵** Found in 2/860 (0.23%) control chromosomes.
↵†† Splice mutation; causes USH2A:p.Pro2533Asnfs*5.23
↵‡‡ Large deletion speculated based on patient's homozygosity of USH2A haplotypes and failure to amplify exon.
↵§§ Last nucleotide of the exon.
¶¶ Deletion strongly suspected based on homozygosity for GPR98 markers (USH2A excluded based on haplotype analysis), and apparent non-inheritance of GPR98 SNPs in the family and PCR non-amplification of patient's as well as affected sib's DNAs (supplemental figure 3).
↵*** Not reported as a consanguineous family. Usher is compatible with mutation in GPR98 (affected sibs are homozygous for a GPR98 haplotype); USH2A is excluded by haplotype analysis.
P, Pathogenic; UV unclassified variant.