Table 1 The ABCA4 disease-associated variants identified in this study
From: Novel variants of ABCA4 in Han Chinese families with Stargardt disease
ProbandID | Age (years) | Sex | Age of onset (years) | BCVA (OD/OS) | Exon/ Intron | Nucleotide change | Amino acid change | Variant type | Zygosity | References |
|---|---|---|---|---|---|---|---|---|---|---|
F1:II:2 | 19 | Female | 10 | 0.15/0.15 | Exon22 | c.3287C > T | p.(Ser1096Leu) | Missense | Het | Stone et al. (2017) |
| Â | Â | Â | Â | Exon12 | c.1561delG | p.(Val521Serfs*47) | Frameshift | Het | Wang et al. (2018) | |
F2:II:1 | 31 | Male | 10 | 0.05/0.02 | Exon22 | c.3262C > A | p.(Pro1088Thr) | Missense | Het | Hu et al. (2019) [18] |
| Â | Â | Â | Â | Exon2 | c.101_106delCTTTAT | p.(Ser34_Leu35del) | Inframe Deletion | Het | Huang et al. (2018) | |
F3:II:1 | 8 | Female | 2 | 0.05/0.1 | Exon27 | c.4066C > T | p.(Gln1356*) | Nonsense | Het | Hu et al. (2019) [18] |
|  |  |  |  | Exon22 | c.3262C > A | p.(Pro1088Thr) | Missense | Het | Hu et al. (2019) [18] | |
F4:II:1 | 22 | Male | 15 | 0.06/0.06 | Intron39 | c.5584 + 5G > A | p.[Thr1821Aspfs*6,Thr1821Valfs*13] | Splicing | Het | Sangermano et al. (2018) |
|  |  |  |  | Exon8 | c.1019A > G | p.(Tyr340Cys) | Missense | Het | Nassisi et al. (2018) | |
F5:II:1 | 39 | Female | 34 | 0.15/0.05 | Exon42 | c.5882G > A | p.(Gly1961Glu) | Missense | Het | Wiszniewski et al. (2005) |
|  |  |  |  | Intron13 | c.1761-2A > G | p.? | Splicing | Het | Jiang et al. (2016) [23] | |
F6:II:1 | 28 | Female | 23 | 0.3/0.2 | Exon14 | c.2034G > T | p.(Lys678Asn) | Missense | Het | Zaneveld et al. (2015) |
| Â | Â | Â | Â | Exon14 | c.2063_2064insA | p.(Asn688Lysfs*78) | Frameshift | Het | Jiang et al. (2016) [23] | |
F7:II:1 | 28 | Male | 3 | 0.07/0.05 | Exon19 | c.2894A > G | p.(Asn965Ser) | Missense | Het | Zernant et al. (2011) |
|  |  |  |  | Intron21 | c.3051-1G > A | p.? | Splicing | Het | This study | |
F8:II:1 | 22 | Male | 7 | 0.01/0.1 | Exon19 | c.2894A > G | p.(Asn965Ser) | Missense | Het | Zernant et al. (2011) |
|  |  |  |  | Exon38 | c.5327C > T | p.(Pro1776Leu) | Missense | Het | Mandal et al. (2005) | |
F9:II:1 | 10 | Female | 8 | 0.1/0.5 | Exon12 | c.1760G > A | p.(Arg587Lys) | Missense | Het | Fujinami et al. (2015) [14] |
|  |  |  |  | Exon4 | c.428C > T | p.(Pro143Leu) | Missense | Het | Consugar et al. (2015) [21] | |
F10:II:2 | 20 | Male | 10 | 0.2/0.15 | Exon13 | c.1892G > T | p.(Gly631Val) | Missense | Het | Hu et al. (2019) [18] |
|  |  |  |  | Exon9 | c.1229 T > C | p.(Ile410Thr) | Missense | Het | Jiang et al. (2016) [23] | |
F11:II:2 | 13 | Male | 11 | 0.3/0.6 | Exon22 | c.3322C > T | p.(Arg1108Cys) | Missense | Het | Sodi et al. (2006) |
|  |  |  |  | Exon20 | c.3017G > A | p.(Gly1006Asp) | Missense | Het | This study | |
F12:II:1 | 16 | Male | 14 | 0.05/0.1 | Exon36 | c.5167 T > C | p.(Tyr1723His) | Missense | Het | This study |
| Â | Â | Â | Â | Exon2 | c.101_106delCTTTAT | p.(Ser34_Leu35del) | Inframe Deletion | Het | Huang et al. (2018) |