Table 1 Demographic, genetic and clinical characteristics of probands
Proband ID | Gender | Agea [years] | Exon/intron | Nucleotide change | Amino acid change | Allele state | dbSNP/ClinVar accession number | Variant classificationb | MAF | New or known variants | Best’s disease stagec | BCVAd | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LE | RE | LE | RE | |||||||||||
P1 | M | 50 | ex2 | c.5C>T | p.(Thr2Ile) | HET | NA | Likely pathogenic | NA | Kinnick (2011) | 5 | 5 | 0.1 | 0.4 |
P2 | F | 42 | ex2 | c.11C>T | p.(Thr4Ile) | HET | NA | Likely pathogenic | NA | Tian (2014) | 2 | 2 | 0 | 0 |
P3* | F | 13 | ex2 | c.11C>T | p.(Thr4Ile) | HET | NA | Likely pathogenic | NA | Kinnick (2011) | 1 | 1 | 0.1 | 0.1 |
P4* | M | 27 | ex2 | c.26T>G | p.(Val9Gly) | HET | SCV000599452 | Likely pathogenic | NA | NEW | 2 | 2 | 0 | 0.6 |
P5 | F | 34 | ex2 | c.44G>A | p.(Gly15Asp) | HET | NA | Likely pathogenic | NA | Querques (2009) | NA | NA | NA | NA |
P6 | M | 22 | ex2 | c.44G>A | p.(Gly15Asp) | HET | NA | Likely pathogenic | NA | Querques (2009) | 3 | 4 | 0 | 0.2 |
P7 | F | 13 | ex2 | c.44G>A | p.(Gly15Asp) | HET | NA | Likely pathogenic | NA | Querques (2009) | 0 | 3 | 0 | 0.22 |
P8* | M | 56 | ex2 | c.47C>T | p.(Ser16Phe) | HET | rs281865210 | Likely pathogenic | NA | Marchant (2001) | 2 | 2 | 0.1 | 0.7 |
P9 | F | 23 | ex2 | c.74G>A | p.(Arg25Gln) | HET | rs281865215 | Likely pathogenic | A = 0.000008 (Topmed) | Marquardt (1998) | 4 | 2 | 0.5 | 0 |
P10 | F | 47 | ex1 | c.80G>C | p.(Ser27Thr) | HET | NA | Likely pathogenic | NA | Bernardis (2016) | 3 | 4 | 0.1 | 0.2 |
P11* | F | 55 | ex2 | c.80G>C | p.(Ser27Thr) | HET | NA | Likely pathogenic | NA | Bernardis (2016) | 2 | 2 | NA | NA |
P12 | F | 52 | ex2 | c.80G>C | p.(Ser27Thr) | HET | NA | Likely pathogenic | NA | Bernardis (2016) | 3 | 3 | 0.7 | 1 |
P13* | M | 10 | ex2 | c.86A>G | p.(Tyr29Cys) | HET | NA | Likely pathogenic | NA | Downs (2007) | 4 | 4 | 0 | 0 |
P14 | F | 27 | ex4 | c.274C>T | p.(Arg92Cys) | HOM | rs281865224 | Pathogenic | NA | Bakall (1999) | NA | NA | NA | NA |
P15 | M | 42 | ex4 | c.278G>C | p.(Trp93Ser) | HET | NA | Likely pathogenic | NA | Tian (2017) | NA | NA | NA | NA |
P16* | M | 70 | ex4 | c.301C>A | p.(Pro101Thr) | HET | rs281865229 | Likely pathogenic | NA | Lotery (2000) | 4 | 3 | 0.5 | 0 |
P17 | M | 26 | ex4 | c.324C>G | p.(Ser108Arg) | HET | SCV000747137 | Vus | NA | NEW | 2 | 2 | 0.1 | 1 |
P18 | M | 46 | ex5 | c.535A>G | p.(Asn179Asp) | HET | SCV000599453 | Likely pathogenic | NA | NEW | 1 | 2 | 0.3 | 0.3 |
P19 | F | 13 | ex5 | c.544T>C | p.(Trp182Arg) | HET | SCV000747139 | Vus | NA | NEW | 4 | 4 | NA | NA |
P20* | M | 19 | ex5 | c.598C>T | p.(Arg200*) | HET | rs121918286 | Pathogenic | T = 0.00002/3 (ExAC) | Burgess (2008) | NA | NA | NA | NA |
| Â | Â | Â | ex7 | c.728C>A | p.(Ala243Glu) | HET | NA | Likely pathogenic | NA | Fung (2014) | NA | NA | NA | NA |
P21* | F | 25 | ex6 | c.652C>T | p.(Arg218Cys) | HET | rs281865238 | Pathogenic | NA | Johnson (2013) | 2 | 2 | 0.1 | 0 |
P22 | F | 13 | ex6 | c.652C>T | p.(Arg218Cys) | HET | rs281865238 | Pathogenic | NA | Johnson (2013) | 0 | 3 | 0 | 0.17 |
P23 | M | 14 | ex6 | c.652C>T | p.(Arg218Cys) | HET | rs281865238 | Pathogenic | NA | Johnson (2013) | 2 | 2 | 0.4 | 0 |
P24 | M | 42 | ex6 | c.652C>A | p.(Arg218Ser) | HET | rs281865238 | Likely pathogenic | NA | Bakall (1999) | 3 | 3 | 0.5 | 0.4 |
P25 | M | 54 | ex5 | c.695T>A | p.(Ile232Asn) | HET | NA | Likely pathogenic | NA | Wabbels (2006) | 3 | 3 | 0.6 | 0.8 |
P26 | M | 17 | ex6 | c.703G>T | p.(Val235Leu) | HET | NA | Likely pathogenic | NA | Marchant (2001) | 3 | 3 | 0.1 | 0.1 |
P27* | F | 51 | ex7 | c.727G>A | p.(Ala243Thr) | HET | rs137853905 | Pathogenic | NA | Lotery (2000) | 2 | 2 | 1 | 1 |
P28 | M | 49 | ex7 | c.728C>T | p.(Ala243Val) | HET | rs28940570 | Pathogenic | T = 0.000008/1 (ExAC) | White (2000) | 3 | 3 | 0.1 | 0 |
P29* | F | 43 | ex7 | c.728C>T | p.(Ala243Val) | HET | rs28940570 | Pathogenic | T = 0.000008/1 (ExAC) | White (2000) | 3 | 2 | 0.2 | 0.2 |
P30* | F | 50 | ex7 | c.728C>T | p.(Ala243Val) | HET | rs28940570 | Pathogenic | T = 0.000008/1 (ExAC) | White (2000) | NA | NA | NA | NA |
P31* | M | 9 | ex8 | c.874G>C | p.(Glu292Gln) | HET | SCV000747140 | Likely pathogenic | NA | NEW | 2 | 2 | 1 | 1 |
P32 | M | 39 | ex8 | c.888C>G | p.(Asn296Lys) | HET | SCV000802932 | Pathogenic | NA | NEW | 3 | 3 | 0.1 | 0.3 |
P33 | F | 41 | ex8 | c.888C>A | p.(Asn296Lys) | HET | NA | Pathogenic | NA | Boon (2007) | 2 | 2 | 0.3 | 0.3 |
P34 | M | 10 | ex8 | c.893T>G | p.(Phe298Cys) | HET | NA | Likely pathogenic | NA | Meunier (2011) | NA | NA | NA | NA |
P35 | M | 53 | ex8 | c.893T>G | p.(Phe298Cys) | HET | NA | Likely pathogenic | NA | Meunier (2011) | NA | NA | NA | NA |
P36* | M | 21 | ex8 | c.903T>G | p.(Asp301Glu) | HET | rs281865261 | Pathogenic | NA | Caldwell (1999) | NA | NA | 0 | 0.6 |