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 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.

scholarly journals Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Rajendran Kadarkarai Raj ◽  
Pankaja Dhoble ◽  
Rupa Anjanamurthy ◽  
Prakash Chermakani ◽  
Manojkumar Kumaran ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
South Indian Population ◽  
Missense Mutations ◽  
Stargardt Disease ◽  
Fundus Imaging ◽  
South Indian ◽  
Base Pair Deletion ◽  
Single Base Pair ◽  
Larger Sample

Abstract Background Stargardt disease 1 (STGD1; MIM 248200) is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4. This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and phosphatidylethanolamine. The purpose of this study is to identify the frequency of putative disease-causing mutations associated with Stargardt disease in a South Indian population. Methods A total of 28 clinically diagnosed Stargardt-like phenotype patients were recruited from south India. Ophthalmic examination of all patients was carefully carried out by a retina specialist based on the stages of fundus imaging and ERG grouping. Genetic analysis of ABCA4 was performed for all patients using Sanger sequencing and clinical exome sequencing. Results This study identified disease-causing mutations in ABCA4 in 75% (21/28) of patients, 7% (2/28) exhibited benign variants and 18% (5/28) were negative for the disease-causing mutation. Conclusion This is the first study describing the genetic association of ABCA4 disease-causing mutation in South Indian Stargardt 1 patients (STGD1). Our findings highlighted the presence of two novel missense mutations and an (in/del, single base pair deletion & splice variant) in ABCA4. However, genetic heterogeneity in ABCA4 mutants requires a larger sample size to establish a true correlation with clinical phenotype.

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 Erratum: Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

2012 ◽  
Vol 57 (3) ◽  
pp. 221-221
Author(s):  
Amira Mili ◽  
Ilhem Ben Charfeddine ◽  
Ons Mama ◽  
Sonia Abdelhak ◽  
Labiba Adala ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Biochemical Characterization ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iii ◽  
Tunisian Patients

Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome

2016 ◽  
Vol 47 (2) ◽  
pp. 105-110 ◽  
Author(s):  
Fakhri Kallabi ◽  
Neila Belghuith ◽  
Hajer Aloulou ◽  
Thouraya Kammoun ◽  
Soufiane Ghorbel ◽  
...  
Keyword(s):  
Genetic Characterization ◽  
Allgrove Syndrome ◽  
Tunisian Patients

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients

2011 ◽  
Vol 412 (23-24) ◽  
pp. 2326-2331 ◽  
Author(s):  
S. Ouesleti ◽  
V. Brunel ◽  
H. Ben Turkia ◽  
H. Dranguet ◽  
A. Miled ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Tunisian Patients ◽  
Mps Iiia

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia

2012 ◽  
Vol 414 ◽  
pp. 146-151 ◽  
Author(s):  
Awatef Jelassi ◽  
Afef Slimani ◽  
Jean Pierre Rabès ◽  
Imen Jguirim ◽  
Marianne Abifadel ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Ldlr Gene ◽  
Tunisian Patients ◽  
Genomic Characterization

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
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