scholarly journals ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants

2019 ◽  
Vol 10 ◽  
Author(s):  
Fang-Yuan Hu ◽  
Jian-kang Li ◽  
Feng-Juan Gao ◽  
Yu-He Qi ◽  
Ping Xu ◽  
...  
Keyword(s):  
Stargardt Disease ◽  
Gene Screening ◽  
Disease Identification ◽  
Abca4 Gene ◽  
Novel Variants ◽  
Chinese Cohort

scholarly journals Corrigendum to “Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles”

2018 ◽  
Vol 2018 ◽  
pp. 1-1
Author(s):  
Smaragda Kamakari ◽  
Vassiliki Kokkinou ◽  
George Koutsodontis ◽  
Polixeni Stamatiou ◽  
Christoforos Giatzakis ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Novel Mutations ◽  
Stargardt Disease ◽  
Disease Identification ◽  
Abca4 Gene

scholarly journals Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Kamakari Smaragda ◽  
Kokkinou Vassiliki ◽  
Koutsodontis George ◽  
Stamatiou Polixeni ◽  
Giatzakis Christoforos ◽  
...  
Keyword(s):  
Mutant Allele ◽  
Detection Rate ◽  
Direct Sequencing ◽  
Complete Characterization ◽  
Novel Mutations ◽  
Stargardt Disease ◽  
Pathogenic Variants ◽  
Disease Identification ◽  
Abca4 Gene ◽  
Combination Of Methods

Aim. To evaluate the frequency and pattern of disease-associated mutations of ABCA4 gene among Greek patients with presumed Stargardt disease (STGD1). Materials and Methods. A total of 59 patients were analyzed for ABCA4 mutations using the ABCR400 microarray and PCR-based sequencing of all coding exons and flanking intronic regions. MLPA analysis as well as sequencing of two regions in introns 30 and 36 reported earlier to harbor deep intronic disease-associated variants was used in 4 selected cases. Results. An overall detection rate of at least one mutant allele was achieved in 52 of the 59 patients (88.1%). Direct sequencing improved significantly the complete characterization rate, that is, identification of two mutations compared to the microarray analysis (93.1% versus 50%). In total, 40 distinct potentially disease-causing variants of the ABCA4 gene were detected, including six previously unreported potentially pathogenic variants. Among the disease-causing variants, in this cohort, the most frequent was c.5714+5G>A representing 16.1%, while p.Gly1961Glu and p.Leu541Pro represented 15.2% and 8.5%, respectively. Conclusions. By using a combination of methods, we completely molecularly diagnosed 48 of the 59 patients studied. In addition, we identified six previously unreported, potentially pathogenic ABCA4 mutations.

scholarly journals Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles

2020 ◽  
Vol 21 (10) ◽  
pp. 3430
Author(s):  
Aneta Ścieżyńska ◽  
Marta Soszyńska ◽  
Michał Komorowski ◽  
Anna Podgórska ◽  
Natalia Krześniak ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Splice Site ◽  
Human Hair ◽  
Gene Mutations ◽  
Hair Follicles ◽  
Cdna Sequencing ◽  
Stargardt Disease ◽  
Protein Levels ◽  
Abca4 Gene ◽  
Functional Consequences

ABCA4 gene mutations are the cause of a spectrum of ABCA4 retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. ABCA4 has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of ABCA4 variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the ABCA4 gene splice-site variants in patients with ABCA4 retinopathies. We assessed ABCA4 expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length ABCA4 transcripts and analyzed ABCA4 transcripts from three patients with Stargardt disease carrying different splice-site ABCA4 variants: c.5312+1G>A, c.5312+2T>G and c.5836-3C>A. cDNA analysis revealed that c.5312+1G>A, c.5312+2T>G variants led to the skipping of exon 37, and the c.5836-3C>A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of ABCA4 variants in patients with ABCA4 retinopathies.

Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients

2013 ◽  
Vol 71 (6) ◽  
pp. 645-651
Author(s):  
Ibtissem Chouchene ◽  
Leila Largueche ◽  
Farah Ouechtati ◽  
Kawthar Derouiche ◽  
Ahmed Turki ◽  
...  
Keyword(s):  
Stargardt Disease ◽  
Abca4 Gene ◽  
Tunisian Patients

scholarly journals Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease

2019 ◽  
Vol 20 (20) ◽  
pp. 5053 ◽  
Author(s):  
Nassisi ◽  
Mohand-Saïd ◽  
Andrieu ◽  
Antonio ◽  
Condroyer ◽  
...  
Keyword(s):  
In Silico ◽  
Cohort Analysis ◽  
Pathogenic Variant ◽  
Stargardt Disease ◽  
Phenotypic Analysis ◽  
Variable Effect ◽  
Mild Phenotype ◽  
Related Phenotype ◽  
Novel Variants ◽  
Intronic Variants

We investigated the prevalence of reported deep-intronic variants in a French cohort of 70 patients with Stargardt disease harboring a monoallelic pathogenic variant on the exonic regions of ABCA4. Direct Sanger sequencing of selected intronic regions of ABCA4 was conducted. Complete phenotypic analysis and correlation with the genotype was performed in case a known intronic pathogenic variant was identified. All other variants found on the analyzed sequences were queried for minor allele frequency and possible pathogenicity by in silico predictions. The second mutated allele was found in 14 (20%) subjects. The three known deep-intronic variants found were c.5196+1137G>A in intron 36 (6 subjects), c.4539+2064C>T in intron 30 (4 subjects) and c.4253+43G>A in intron 28 (4 subjects). Even though the phenotype depends on the compound effect of the biallelic variants, a genotype-phenotype correlation suggests that the c.5196+1137G>A was mostly associated with a mild phenotype and the c.4539+2064C>T with a more severe one. A variable effect was instead associated with the variant c.4253+43G>A. In addition, two novel variants, c.768+508A>G and c.859-245_859-243delinsTGA never associated with Stargardt disease before, were identified and a possible splice defect was predicted in silico. Our study calls for a larger cohort analysis including targeted locus sequencing and 3D protein modeling to better understand phenotype-genotype correlations associated with deep-intronic changes and patients’ selection for clinical trials.

Different Patterns of Fundus Autofluorescence Related to ABCA4 Gene Mutationsin Stargardt Disease

2010 ◽  
Vol 41 (1) ◽  
pp. 48-53 ◽  
Author(s):  
Andrea Sodi ◽  
Alessandro Bini ◽  
Ilaria Passerini ◽  
Simona Forconi ◽  
Ugo Menchini ◽  
...  
Keyword(s):  
Fundus Autofluorescence ◽  
Stargardt Disease ◽  
Abca4 Gene

Gaucher disease: Identification and novel variants in Mexican and Spanish patients

2021 ◽  
Author(s):  
Raúl Silva García ◽  
Laura López de Frutos ◽  
Elsa Ávila Arreguin ◽  
Cecilia Correa González ◽  
José Elias García Ortiz ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Identification ◽  
Novel Variants
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