ABCA4 p.Tyr808*
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[hide] Exome sequencing analysis identifies compound hete... PLoS One. 2014 Mar 14;9(3):e91962. doi: 10.1371/journal.pone.0091962. eCollection 2014. Zhou Y, Tao S, Chen H, Huang L, Zhu X, Li Y, Wang Z, Lin H, Hao F, Yang Z, Wang L, Zhu X
Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease.
PLoS One. 2014 Mar 14;9(3):e91962. doi: 10.1371/journal.pone.0091962. eCollection 2014., [PMID:24632595]
Abstract [show]
Stargardt disease is the most common cause of juvenile macular dystrophy. Five subjects from a two-generation Chinese family with Stargardt disease are reported in this study. All family members underwent complete ophthalmologic examinations. Patients of the family initiated the disease during childhood, developing progressively impaired central vision and bilateral atrophic macular lesions in the retinal pigmental epithelium (RPE) that resembled a "beaten-bronze" appearance. Peripheral venous blood was obtained from all patients and their family members for genetic analysis. Exome sequencing was used to analyze the exome of two patients II1, II2. A total of 50709 variations shared by the two patients were subjected to several filtering steps against existing variation databases. Identified variations were verified in all family members by PCR and Sanger sequencing. Compound heterozygous variants p.Y808X and p.G607R of the ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4) gene, which encodes the ABCA4 protein, a member of the ATP-binding cassette (ABC) transport superfamily, were identified as causative mutations for Stargardt disease of this family. Our findings provide one novel ABCA4 mutation in Chinese patients with Stargardt disease.
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No. Sentence Comment
8 Compound heterozygous variants p.Y808X and p.G607R of the ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4) gene, which encodes the ABCA4 protein, a member of the ATP-binding cassette (ABC) transport superfamily, were identified as causative mutations for Stargardt disease of this family.
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ABCA4 p.Tyr808* 24632595:8:33
status: NEW39 Our results identified two compound heterozygous disease-segregating mutations, c.C2424G, p.Y808X and c.G1819A, p.G607R, in the ABCA4 gene.
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ABCA4 p.Tyr808* 24632595:39:92
status: NEW109 In both patients we found two mutations c.C2424G (p.Y808X) and c.G1819A (p.G607R) satisfying a recessive compound heterozygous inheritance model (Table 3) in the gene ABCA4 (NM_000350.2).
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ABCA4 p.Tyr808* 24632595:109:52
status: NEW111 Sanger sequencing confirmed these two mutations in the two affected siblings and demonstrated that their parents were unaffected carriers of Y808X (father) and G607R (mother) mutations, showing complete co-segregation of the mutations with the disease phenotype (Figure 3).
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ABCA4 p.Tyr808* 24632595:111:141
status: NEW113 These data, together with the clinical presentation of the two affected siblings, demonstrated that p.G607R and p.Y808X variants in the gene ABCA4 was responsible for Stargardt disease in this family.
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ABCA4 p.Tyr808* 24632595:113:114
status: NEW115 The previously reported mutation p.G607R of ABCA4 was predicted to be damaging and the novel mutation c.C2424G, p.Y808X in the affected families introduced a stop codon, which removed 1465 amino acids from the ABCA4 protein (2273 amino acids), according to GenBank accession number NM_000350.2.
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ABCA4 p.Tyr808* 24632595:115:114
status: NEW119 Mutation Y808X, located within exon 16, results in a nonsense mutation, and the mRNA with a premature stop codon is likely to be degenerated by the nonsense-mediated mRNA decay response, thus leading to a decrease in ABCA4 expression.
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ABCA4 p.Tyr808* 24632595:119:9
status: NEW131 Our result also indicated that G607R occurs in the ECD1 domain, while Y808X occurs in the disc lumen region between TMD1 (Figure 4B).
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ABCA4 p.Tyr808* 24632595:131:70
status: NEW146 (A) Protein alignment showed conservation of residues ABCA4 Y808X and G607R across nine species.
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ABCA4 p.Tyr808* 24632595:146:60
status: NEW148 The ABCA4 mutation G607R occured in the NBD1 while Y808X occured in the disc lumen region between TMD1.
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ABCA4 p.Tyr808* 24632595:148:51
status: NEW157 In our study compound heterozygous mutations p.Y808X and p.G607R of the ABCA4 gene were identified.
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ABCA4 p.Tyr808* 24632595:157:47
status: NEW160 The novel stopgain p.Y808X mutation in exon 16 was detected in a heterozygous state, close to the previously reported mutation p.G818E [11].
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ABCA4 p.Tyr808* 24632595:160:21
status: NEW