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 ◽  
...  
2020 ◽  
Vol 21 (10) ◽  
pp. 3430
Author(s):  
Aneta Ścieżyńska ◽  
Marta Soszyńska ◽  
Michał Komorowski ◽  
Anna Podgórska ◽  
Natalia Krześniak ◽  
...  

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.


2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Rajendran Kadarkarai Raj ◽  
Pankaja Dhoble ◽  
Rupa Anjanamurthy ◽  
Prakash Chermakani ◽  
Manojkumar Kumaran ◽  
...  

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.


2019 ◽  
Vol 10 ◽  
Author(s):  
Fang-Yuan Hu ◽  
Jian-kang Li ◽  
Feng-Juan Gao ◽  
Yu-He Qi ◽  
Ping Xu ◽  
...  

2018 ◽  
Vol 2018 ◽  
pp. 1-1
Author(s):  
Smaragda Kamakari ◽  
Vassiliki Kokkinou ◽  
George Koutsodontis ◽  
Polixeni Stamatiou ◽  
Christoforos Giatzakis ◽  
...  

2012 ◽  
Vol 57 (3) ◽  
pp. 221-221
Author(s):  
Amira Mili ◽  
Ilhem Ben Charfeddine ◽  
Ons Mama ◽  
Sonia Abdelhak ◽  
Labiba Adala ◽  
...  

2016 ◽  
Vol 47 (2) ◽  
pp. 105-110 ◽  
Author(s):  
Fakhri Kallabi ◽  
Neila Belghuith ◽  
Hajer Aloulou ◽  
Thouraya Kammoun ◽  
Soufiane Ghorbel ◽  
...  

2011 ◽  
Vol 412 (23-24) ◽  
pp. 2326-2331 ◽  
Author(s):  
S. Ouesleti ◽  
V. Brunel ◽  
H. Ben Turkia ◽  
H. Dranguet ◽  
A. Miled ◽  
...  

2012 ◽  
Vol 414 ◽  
pp. 146-151 ◽  
Author(s):  
Awatef Jelassi ◽  
Afef Slimani ◽  
Jean Pierre Rabès ◽  
Imen Jguirim ◽  
Marianne Abifadel ◽  
...  

2010 ◽  
Vol 41 (1) ◽  
pp. 48-53 ◽  
Author(s):  
Andrea Sodi ◽  
Alessandro Bini ◽  
Ilaria Passerini ◽  
Simona Forconi ◽  
Ugo Menchini ◽  
...  

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