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Article

Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients

1
Department of Biological and Environmental Sciences, Faculty of Science, Beirut Arab University, Debbieh 1107 2809, Lebanon
2
Rammal Hassan Rammal Research Laboratory, PhyToxE research group, Department of Life and Earth Sciences, Faculty of Sciences, Lebanese University, Nabatieh 1700, Lebanon
3
Retinal Service, Beirut Eye & ENT Specialist Hospital, Beirut 1106, Lebanon
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Sorbonne Université, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France
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Biology Department, Faculty of Sciences-I, Lebanese University, Beirut, Lebanon
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CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC1423, F-75012 Paris, France
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University College London Institute of Ophthalmology, London EC1V 9EL, UK
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ER045, PRASE, DSST, Lebanese University, Beirut, Lebanon
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Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut 1107 2809, Lebanon
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Genes 2019, 10(2), 151; https://doi.org/10.3390/genes10020151
Received: 10 January 2019 / Revised: 7 February 2019 / Accepted: 7 February 2019 / Published: 18 February 2019
(This article belongs to the Section Human Genomics and Genetic Diseases)
To identify Bestrophin 1 (BEST1) causative mutations in six Lebanese patients from three families, of whom four had a presumed clinical diagnosis of autosomal recessive bestrophinopathy (ARB) and two showed a phenotype with a single vitelliform lesion, patients were subjected to standard ophthalmic examinations. In addition, BEST1 exons and their flanking regions were amplified and sequenced by Sanger sequencing. Co-segregation and detailed bio-informatic analyses were performed. Clinical examination results were consistent with ARB diagnosis for all index patients showing multifocal vitelliform lesions and a markedly reduced light peak in the electrooculogram, including the two patients with a single vitelliform lesion. In all cases, most likely disease-causing BEST1 mutations co-segregated with the phenotype. The ARB cases showed homozygous missense variants (M1, c.209A>G, p.(Asp70Gly) in exon 3, M2, c.1403C>T; p.(Pro468Leu) in exon 10 and M3, c.830C>T, p.(Thr277Met) in exon 7), while the two patients with a single vitelliform lesion were compound heterozygous for M1 and M2. To our knowledge, this is the first study describing mutations in Lebanese patients with bestrophinopathy, where novel biallelic BEST1 mutations associated with two phenotypes were identified. Homozygous mutations were associated with multifocal lesions, subretinal fluid, and intraretinal cysts, whereas compound heterozygous ones were responsible for a single macular vitelliform lesion. View Full-Text
Keywords: autosomal recessive bestrophinopathy; single vitelliform lesion; BEST1; mutations; Sanger sequencing autosomal recessive bestrophinopathy; single vitelliform lesion; BEST1; mutations; Sanger sequencing
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MDPI and ACS Style

Jaffal, L.; Joumaa, W.H.; Assi, A.; Helou, C.; Condroyer, C.; El Dor, M.; Cherfan, G.; Zeitz, C.; Audo, I.; Zibara, K.; El Shamieh, S. Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients. Genes 2019, 10, 151. https://doi.org/10.3390/genes10020151

AMA Style

Jaffal L, Joumaa WH, Assi A, Helou C, Condroyer C, El Dor M, Cherfan G, Zeitz C, Audo I, Zibara K, El Shamieh S. Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients. Genes. 2019; 10(2):151. https://doi.org/10.3390/genes10020151

Chicago/Turabian Style

Jaffal, Lama, Wissam H. Joumaa, Alexandre Assi, Charles Helou, Christel Condroyer, Maya El Dor, Georges Cherfan, Christina Zeitz, Isabelle Audo, Kazem Zibara, and Said El Shamieh. 2019. "Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients" Genes 10, no. 2: 151. https://doi.org/10.3390/genes10020151

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