Zohra Chibani1, Imen Zone Abid2, Annette Molbaek3, Peter Söderkvist3, Jamel Feki2, Mounira Hmani-Aifa1. 1. Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Sfax, Tunisia. 2. Department of Ophthalmology, Habib Bourguiba, University Hospital, University of Sfax, Sfax, Tunisia. 3. Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden.
Abstract
BACKGROUND: Epidemiological studies of hereditary eye diseases allowed us to identify two Tunisian families suffering from macular dystrophies: Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The purpose of the current study was to investigate the clinical characteristics and the underlying genetics of these two forms of macular dystrophy. METHODS: Complete ophthalmic examination was performed including optical coherence tomography, electroretinography, electrooculography and autofluoresence imaging in all patients. Genomic DNA was extracted from peripheral blood collected from patients and family members. RESULTS: Sanger sequencing of all exons of the BEST1 gene in both families identified two new mutations: a missense mutation c.C91A [p.L31 M] at the N-terminal transmembrane domain within the ARB family and a nonsense mutation C1550G (p.S517X) in the C-terminal domain segregating in the BVMD family. CONCLUSIONS: Several mutations of the BEST1 gene have been reported which are responsible for numerous ocular pathologies. To the best of our knowledge, it is the first time we report mutations in this gene in Tunisian families presenting different forms of macular dystrophy. Our report also expands the list of pathogenic BEST1 genotypes and the associated clinical diagnosis.
BACKGROUND: Epidemiological studies of hereditary eye diseases allowed us to identify two Tunisian families suffering from macular dystrophies: Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The purpose of the current study was to investigate the clinical characteristics and the underlying genetics of these two forms of macular dystrophy. METHODS: Complete ophthalmic examination was performed including optical coherence tomography, electroretinography, electrooculography and autofluoresence imaging in all patients. Genomic DNA was extracted from peripheral blood collected from patients and family members. RESULTS: Sanger sequencing of all exons of the BEST1 gene in both families identified two new mutations: a missense mutation c.C91A [p.L31 M] at the N-terminal transmembrane domain within the ARB family and a nonsense mutation C1550G (p.S517X) in the C-terminal domain segregating in the BVMD family. CONCLUSIONS: Several mutations of the BEST1 gene have been reported which are responsible for numerous ocular pathologies. To the best of our knowledge, it is the first time we report mutations in this gene in Tunisian families presenting different forms of macular dystrophy. Our report also expands the list of pathogenic BEST1 genotypes and the associated clinical diagnosis.
Authors: Imen Habibi; Yosra Falfoul; Margarita G Todorova; Stefan Wyrsch; Veronika Vaclavik; Maria Helfenstein; Ahmed Turki; Khaled El Matri; Leila El Matri; Daniel F Schorderet Journal: Genes (Basel) Date: 2020-05-03 Impact factor: 4.096
Authors: Imen Habibi; Yosra Falfoul; Margarita G Todorova; Stefan Wyrsch; Veronika Vaclavik; Maria Helfenstein; Ahmed Turki; Khaled El Matri; Leila El Matri; Daniel F Schorderet Journal: Genes (Basel) Date: 2019-11-21 Impact factor: 4.096
Authors: Karsten Hufendiek; Katerina Hufendiek; Herbert Jägle; Heidi Stöhr; Marius Book; Georg Spital; Günay Rustambayova; Carsten Framme; Bernhard H F Weber; Agnes B Renner; Ulrich Kellner Journal: Int J Mol Sci Date: 2020-12-08 Impact factor: 5.923