ABCA4 p.Arg2040*
| ClinVar: |
c.6119G>A
,
p.Arg2040Gln
N
, Likely benign
c.6118C>T , p.Arg2040* ? , not provided |
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[hide] ABCA4 sequence variants in Chinese patients with a... Ophthalmologica. 2003 Mar-Apr;217(2):111-4. Baum L, Chan WM, Li WY, Lam DS, Wang PB, Pang CP
ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease.
Ophthalmologica. 2003 Mar-Apr;217(2):111-4., [PMID:12592048]
Abstract [show]
ABCA4 gene sequence alterations cause Stargardt's disease (STGD) and may cause some age-related macular degeneration (AMD). We sought to shed light on these associations among Hong Kong Chinese by genotyping 140 AMD, 18 STGD and 95 normal control subjects for 15 ABCA4 exons which were reported to often contain AMD- or STGD-associated mutations. Sequence alterations R212H, T1428M, V1433I, T1572M, I2166M, IVS6-5T>G and IVS33+1G>T were found in AMD patients. T1428M and R2040X occurred in STGD patients. Control subjects displayed all the above missense alterations but no splicing or nonsense changes. Therefore, ABCA4 splicing mutations may be associated with a small proportion of AMD cases.
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No. Sentence Comment
4 T1428M and R2040X occurred in STGD patients.
X
ABCA4 p.Arg2040* 12592048:4:11
status: NEW19 ABCA4 protein sequence alterations in STGD and normal controls STGD (18) Normal (95) Reports T1428M 2 (11%) 15 (16%) rare in AMD [15] or common polymorphism [17] R2040X 2 (11%) 0 (0%) novel, but nearby truncations in STGD [14] to explore the possible link between ABCA4 alterations and AMD in a previously unexamined ethnic group, we selected 15 exons which had been reported to contain a high proportion of the known ABCA4 sequence changes in STGD and AMD [13, 15, 17, 19, 21], and we examined these exon coding regions and their splice sites for sequence changes in 140 AMD, 18 STGD and 95 elderly normal control subjects who were all unrelated Hong Kong residents, as well as in family members of some patients.
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ABCA4 p.Arg2040* 12592048:19:162
status: NEW35 In STGD, R2040X was detected in 2 patients but not in controls (table 2).
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ABCA4 p.Arg2040* 12592048:35:9
status: NEW[hide] Molecular diagnosis of putative Stargardt disease ... PLoS One. 2014 Apr 24;9(4):e95528. doi: 10.1371/journal.pone.0095528. eCollection 2014. Zhang X, Ge X, Shi W, Huang P, Min Q, Li M, Yu X, Wu Y, Zhao G, Tong Y, Jin ZB, Qu J, Gu F
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing.
PLoS One. 2014 Apr 24;9(4):e95528. doi: 10.1371/journal.pone.0095528. eCollection 2014., [PMID:24763286]
Abstract [show]
Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains a challenge in a significant proportion of cases. To address this, seven patients from five putative STGD families were recruited. We performed capture next generation sequencing (CNGS) of the probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes. Seven disease-causing mutations in ABCA4 and two in PROM1 were identified by CNGS, which provides a confident genetic diagnosis in these five families. We also provided a genetic basis to explain the differences among putative STGD due to various mutations in different genes. Meanwhile, we show for the first time that compound heterozygous mutations in PROM1 gene could cause cone-rod dystrophy. Our findings support the enormous potential of CNGS in putative STGD molecular diagnosis.
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No. Sentence Comment
142 One previous study of STGD in the Chinese population, screened part of ABCA4 coding sequence (15 exons) and identified two relatively common mutations: T1428M and R2040X [21].
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ABCA4 p.Arg2040* 24763286:142:163
status: NEW