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. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048

Table 1. Genotype of 46 Spanish families carrying the p.(Cys759Phe) pathogenic variant in compound heterozygous state or heterozygous carriers with other causative genes.

Categorya Family ID Patient ID Technique (A2) Gene Nucleotide change (A2) Amino acid change (A2) Zygosis Reference
Category B (Cys759Phe+USH2A missense) RP-0366 96/0881 Targeted-NGS USH2A c.754G>T p.(Gly252Cys) Heterozygous [20]
RP-1979 12/1337 Targeted-NGS USH2A c.1606T>C p.(Cys536Arg) Heterozygous [21]
RP-1053 06/0127 Targeted-NGS USH2A c.3507G>C p.(Trp1169Cys) Heterozygous This study
RP-0721 02/0555 Sanger USH2A c.3713C>G p.(Thr1238Arg) Heterozygous [11]
RP-2113 13/0464 Targeted-NGS USH2A c.5462A>G p.(Lys1821Arg) Heterozygous [22]
RP-2504 15/2443 Clinical exome USH2A c.9389G>T p.(Trp3130Leu) Heterozygous This study
RP-0752 02/1128 Usher microarray USH2A c.9799T>C p.(Cys3267Arg) Heterozygous [23]
RP-2156 13/1196 ARRP microarray USH2A c.9799T>C p.(Cys3267Arg) Heterozygous [23]
RP-2494 15/2242 Clinical exome USH2A c.9799T>C p.(Cys3267Arg) Heterozygous [23]
RP-2372 14/1933 ARRP microarray USH2A c.11156G>A p.(Arg3719His) Heterozygous [24]
RP-0653 01/0385 Sanger USH2A c.12575G>A p.(Arg4192His) Heterozygous [11]
RP-1574 10/0653 ARRP microarray USH2A c.13010C>T p.(Thr4337Met) Heterozygous [23]
Category C (Cys759Phe+USH2A truncating) RP-1525 09/2102 ARRP microarray USH2A c.100C>T p.(Arg34*) Heterozygous [21]
RP-0391 97/0318 ARRP microarray USH2A c.187C>T p.(Arg63*) Heterozygous [21]
RP-1802 11/1105 Targeted-NGS USH2A c.920_923dupGCAA p.(His308Glnfs*16) Heterozygous [6]
RP-0016 934 Sanger USH2A c.944_951dupCACAGCGG p. (Cys318Hisfs*21) Heterozygous [25]
RP-1412 09/0426 Targeted-NGS USH2A c.1214delA p.(Asn405Ilefs*3) Heterozygous [26]
RP-0004 0729 Sanger USH2A c.2135delC p.(Ser712*) Heterozygous [25]
RP-0879 04/0740 ARRP microarray USH2A c.2135delC p.(Ser712*) Heterozygous [25]
RP-1104 06/0998 ARRP microarray USH2A c.2299delG p.(Glu767Serfs*21) Heterozygous [8]
Categorya Family ID Patient ID Technique (A2) Gene Nucleotide change (A2) Amino acid change (A2) Zygosis Reference
Category C (Cys759Phe+USH2A truncating) RP-1590 10/0779 ARRP microarray USH2A c.2299delG p.(Glu767Serfs*21) Heterozygous [8]
RP-1810 11/1176 ARRP microarray USH2A c.2299delG p.(Glu767Serfs*21) Heterozygous [8]
RP-1858 11/1929 ARRP microarray USH2A c.2299delG p.(Glu767Serfs*21) Heterozygous [8]
RP-2130 13/0792 ARRP microarray USH2A c.2299delG p.(Glu767Serfs*21) Heterozygous [8]
RP-0605b 00/0554 ARRP microarray USH2A c.2431_2432delAA p.(Lys811Aspfs*11) Heterozygous [27]
RP-0610 00/0505 ARRP microarray USH2A c.2431_2432delAA p.(Lys811Aspfs*11) Heterozygous [27] 
RP-1817 11/1316 ARRP microarray USH2A c.2431_2432delAA p.(Lys811Aspfs*11) Heterozygous [27] 
RP-1016/RP-982 05/1231 MLPA USH2A del Ex.22-29   Heterozygous This study
RP-0467 05/0084 Sanger USH2A c.7595-2144A>G p.(Lys2532Thrfs*56) Heterozygous [28]
RP-1031 05/1440 Sanger USH2A c.7595-2144A>G p.(Lys2532Thrfs*56) Heterozygous [28]
RP-1776 11/0774 Sanger USH2A c.7595-2144A>G p.(Lys2532Thrfs*56) Heterozygous [28]
RP-2262 14/0248 Targeted-NGS USH2A c.7595-2144A>G p.(Lys2532Thrfs*56) Heterozygous [28]
RP-0810c 03/0809 Sanger USH2A c.8435_8438delCCTA p.(Thr2812Metfs*17) Heterozygous [23]
RP-0385 10/0930 MLPA USH2A del Ex.44   Heterozygous [29]
RP-2424 15/0499 Clinical exome USH2A c.10759C>T p.(Gln3587*) Heterozygous [30]
RP-0061 05/0540 Targeted-NGS USH2A c.11548+2T>G Splicing defect Heterozygous [30]
RP-2089 13/0144 ARRP microarray USH2A c.11864G>A p.(Trp3955*) Heterozygous [7]
RP-2529 15/1890 Clinical exome USH2A c.12457delG p.(Ala4153Profs*14) Heterozygous This study
RP-1059 06/0896 Sanger USH2A c.13745delT p.(Ile4582Lysfs*14) Heterozygous [11]
RP-1422 09/0610 Clinical exome USH2A c.13811+2T>G splicing defect Heterozygous [31]
RP-2396 14/2336 Targeted-NGS USH2A c.14091delT p.(Phe4697Leufs*2) Heterozygous [32]
RP-0784 03/0735 Clinical exome USH2A c.14180G>A p.(Trp4727*) Heterozygous [13]
Categorya Family ID Patient ID Technique (A2) Gene Nucleotide change (A2) Amino acid change (A2) Zygosis Reference
Other genes RP-1914 12/0131 Targeted-NGS CNGB1 c.2957A>T p.(Asn986Ile) Homozygous [33]
RP-1899 11/2421 ARRP microarray PROM1 c.1354dupT p.(Tyr452Leufs*13) Homozygous [34]
RP-0551 05/1342 Sanger RP1 c.1625C>G p.(Ser542*) Homozygous [35]
RP-1772d 11/0727 Targeted-NGS RP1 c.2431delA p.(Ser812Valfs*36) Heterozygous [22]

aPatients were organized into different categories: compound heterozygous p.(Cys759Phe) + USH2A missense mutation (Category B), compound heterozygous p.(Cys759Phe) + USH2A truncating mutation (Category C), and "Other genes", carriers for p.(Cys759Phe) allele + causative mutation(s) in other RP gene.

bA splicing variant in CNGB3 (c.852+1G>C) in homozygosity was detected in the proband after NGS-reanalysis.

cA third USH2A variant [c.12574C>T; p.(Arg4192Cys] was detected in cis with p.Cys759Phe, after NGS re-analysis.

dThe RP-1772 family was re-classified as autosomal dominant RP.

Abbreviations: A2, second allele detected in USH2A or other RP gene; Technique (A2), technique by which the second mutation was detected; ARRP microarray, genotyping microarray for autosomal recessive retinitis pigmentosa.

Novel variants in USH2A are displayed in bold.