Recombinant Human Retinal-specific phospholipid-transporting ATPase ABCA4 (ABCA4), partial

1. neighboring deep-intronic ABCA4 variants (c.4539+2001G>A and c.4539+2028C>T) result in a retina-specific 345-nt pseudoexon insertion. PMID: 29526278
2. Two intronic variants c.4773+3A>G and c.5461-10T>C, both predicted to affect splicing, are indeed disease-causing mutations due to skipping of exons 33, 34, 39 and 40 of ABCA4 gene. The experimental proof that ABCA4 mutations in STGD patients affect protein function is crucial for their inclusion to future clinical trials. PMID: 29461686
3. The study broadens the spectrum of ABCA4 mutations with 60 likely pathogenic or pathogenic variants, all associated with Stargardt disease. PMID: 30060493
4. Full-field electroretinography is a predictor of the natural course of ABCA4-associated retinal degeneration. PMID: 29386879
5. Next-generation sequencing was effective for the molecular diagnosis of genetic diseases and specifically allowed a conclusive diagnosis in 80% (40/50) of the patients. As the ABCA4 gene does not show a preferential region for pathogenic variants, the diagnosis of Stargardt disease depends on broader analysis of the gene. The most common pathogenic variants in the ABCA4 gene described in the literature were also found. PMID: 30093795
6. The results indicate that the p.Ala1773Val mutation in ABCA4 is associated with a severe retinal phenotype and thus, could be classified as null. PMID: 29422768
7. The ROC phenotype is a unique classification of ABCA4 disease, which is caused by deleterious null biallelic ABCA4 mutations and is characterized by the rapid deterioration of retinal pigment epithelium and photoreceptor layers in the macula and significant choroidal thinning within the first 2 decades of life. PMID: 28947085
8. ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. PMID: 29162642
9. These findings expand the mutation spectrums of ABCA4 and LRP5, and will be valuable for genetic counseling and development of therapeutic interventions for patients with Familial exudative vitreoretinopathy. PMID: 29207047
10. Our analyses allowed us to classify novel variants in ABCA4 as being clearly loss-of-function mutations, and thus pathogenic variants. PMID: 28885670
11. High prevalence of p.L541P, p.A1038V, and p.G1961E mutations of the ABCA4 gene has been established in patients with Stargardt disease by performing massive parallel sequencing of all coding regions of the ABCA4 gene. PMID: 28980559
12. Two novel pathogenic ABCA4 mutations were identified in Chinese families with Stargardt disease. PMID: 27739528
13. We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. PMID: 28726568
14. Studies indicate that variants in ABCA4 are associated with a wide variety of inherited retinal diseases. PMID: 28044389
15. Segregation analysis is important in order to confirm the molecular diagnosis of patients with Stargardt disease, given the frequency of complex alleles in the ABCA4 gene. The various pathogenic variation combinations observed in this study were associated with different phenotypes. PMID: 29114839
16. The histopathology of the retina in this patient with Stargardt disease displayed a highly degenerated fovea. In all retinal locations studied, cones were more severely affected than rods. PMID: 25265374
17. Thirty six SNP including 9 previously not described, were identified in juvenile-onset blindness patients of south Asian decent. PMID: 28327576
18. This study describes the functional effect and the molecular mechanism of the pathogenic ABCA4 variant c.5461-10T>C. The variant is functionally important as it leads to splicing defects and a reduced level of ABCA4 protein. PMID: 27775217
19. study to determine the effect of 15 individual ABCA4 mutations on retinal disease severity; in the hemizygous state, 2/15 ABCA4 alleles retain preserved peripheral retinal function; 7/15 are associated with either preserved or only mildly abnormal retinal function, worse in older patients; 6/15 behave like null mutations PMID: 27820952
20. The ABCA4 variant c.5461-10T-->C is located on a founder haplotype lacking other disease-causing rare sequence variants. In vitro studies revealed that it leads to mRNA exon skipping and ABCA4 protein truncation. PMID: 26976702
21. Genetic risk score estimates suggest that defined common ABCA4 variants influence disease risk in carriers of a single pathogenic ABCA4 allele. PMID: 28118664
22. A combination of p.[(L541P; A1038V)] and/or a truncating ABCA4 mutation always resulted in an early disease onset. Identification of ABCA4 retinopathies provides a specific molecular diagnosis and justifies a prompt introduction of simple precautions that may slow disease progression. PMID: 26593885
23. Nullizygosity for ABCA4 is associated with early onset cone-rod dysfunction with rapid progression shown by enlargement of central atrophy on FAF, decline of ERG amplitudes with age, and a high risk of reaching legal blindness by the fourth decade. PMID: 27583828
24. Results identified nonsynonymous variants in MYH9 and ABCA4 to be the most frequent risk loci in nonsyndromic orofacial clefts in the Taiwanese population. PMID: 27527345
25. 1268A>G missense variant of the ABCA4 gene has often been reported as causative of disease, and in other cases protective of disease, in our family case, the variant appears to reduce or delay the risk of onset of Stargardt disease. PMID: 28290600
26. Of the 225 genetic tests performed, 150 were for recessive IRD, and 75 were for dominant IRD. A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD and 19 (26%) probands with dominant IRD. Thirty-two novel variants were identified; among these, 17 sequence changes in four genes were predicted to be possibly or probably damaging including: ABCA4 (14), BEST1 (2), PRPH2 (1), and TIMP3 PMID: 28005406
27. A transient SD-OCT phenotype ascribed to patients with hydroxychloroquine retinopathy is associated with an early subtype of STGD1. PMID: 26311262
28. Ten novel ABCA4 variations are detected of which 8 belongs to non-Slavonian population. Most of the detected known variations are found in European and American Stargardt disease populations PMID: 27939946
29. seven out of 27 families, displaying mutations in the ABCA4, RP1, RP2 and USH2A genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis PMID: 26806561
30. ABCA4 carriers demonstrated reduced macular function measured by mERG along with none to subtle and even extensive morphological retinal changes. The c.768 G>T, c.5461-10T>C, and c.319 C>T mutations were associated with the most deviant ERGs. PMID: 26261413
31. 633C>A (CC+CA) genotype, 5646G>A and 6389T>A polymorphisms of ABCA4 gene and smoking are susceptible factors for age-related macular degeneration PMID: 26261643
32. This family epitomizes the clinical and genetic complexity of ABCA4-associated diseases. It contained variants from all classes of mutations PMID: 26527198
33. The mutation spectrum of the ABCA4 gene in Chinese patients is quite different from that for Caucasian patients. The establishment of the mutation profile will facilitate ABCA4 screening and risk evaluation for Chinese patients with STGD1. PMID: 26780318
34. This study indicates that carriers of monoallelic ABCA4 mutations are phenotypically normal. PMID: 26720470
35. With few exceptions, individuals heterozygous for ABCA4 mutations and between the ages of 9 and 60 years do not present with elevated qAF. PMID: 26551331
36. The ABCA4 L541P;A1038V mutation causes severe retinal degenerations whereas the V mutation alone causes mild disease. PMID: 25712131
37. Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease. PMID: 25922843
38. Our findings demonstrate that minor alleles of common genetic variants in ABCA4 significantly reduce susceptibility to develop toxic maculopathy under chloroquine treatment. PMID: 25884411
39. Stargardt eye disease ABCA4 R1108C and R1129C are both temperature-sensitive processing mutants that engage the cellular quality control mechanism and show a strong interaction with the chaperone Hsp 27. PMID: 26092729
40. Two known disease-causing mutations in ABCA4 were identified in proband 1; c.4234C>T, p.(Gln1412*) in exon 28; and c.5882G>A, p.(Gly1961Glu) in exon 42. PMID: 25640233
41. Our study provides further evidence regarding the roles of genetic markers in ABCA4 in NSCL/P development in this northern Chinese Han population. G allele of rs560426 may be a risk factor for developing NSCL/P. PMID: 25499508
42. high qAF levels of ABCA4-positive patients are a hallmark of ABCA4-related disease PMID: 26024099
43. Study reveals high frequency of the deep intronic variant c.4539+2001G>A (V4)in ABCA4 gene that has founder effect and moderate-to-severe impact in the phenotype of Autosomal-recessive Stargardt disease Belgian patients. PMID: 25346251
44. Results show the presence of heterozygous deep-intronic and exonic variants and deletions in ABCA4 in patients with retinal dystrophies. PMID: 25363634
45. Significant evidence was found for a relationship between the G1961E and D2177N variants in ABCA4 with increased susceptibility to AMD, specifically for Americans PMID: 25921964
46. New mutations have been described in the ABCA4 genomic locus in Stargardt disease. PMID: 25082829
47. The relatively high proportion of deleterious ABCA4 variants supports the hypothesis that earlier onset disease is often owing to more severe variants in ABCA4 than those found in adult-onset disease. PMID: 25312043
48. Thus, early-onset Stargardt lies at the severe end of the spectrum of ABCA4-associated retinal phenotypes. PMID: 25444351
49. The qAF method can differentiate between ABCA4-associated and non-ABCA4-associated BEM and may guide clinical diagnosis and genetic testing. PMID: 25283059
50. The anatomy, metabolism, and biochemistry of the retina, as well as genetic variations in genes other than ABCA4, can influence the etiology of foveal sparing. PMID: 25324290

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HGNC: 34

OMIM: 153800

KEGG: hsa:24

STRING: 9606.ENSP00000359245

UniGene: Hs.416707