Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe |
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| Institution: | 1. Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland;2. Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland;3. Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland;4. Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA;5. Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland;6. Department of Ophthalmology, Linköping University, Linköping, Sweden;7. Department of Ophthalmology, Namsos Hospital, Namsos, Norway;8. Department of Ophthalmology and Eye Rehabilitation, Medical University of Bialystok, Bialystok, Poland;9. Medical Centre Vigor Med, Leszno, Poland;10. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA;11. Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA;12. Texas Children’s Hospital, Houston, TX, USA;1. Jagiellonian University Medical College, Faculty of Medicine, Institute of Cardiology, Department of Interventional Cardiology, John Paul II Hospital, Krakow, Poland;1. Jagiellonian University Medical College, Department of Pediatrics, Krakow, Poland;2. Jagiellonian University Medical College, Student Scientific Association, Krakow, Poland;1. Endoterapia, H-T. Centrum Medyczne, Tychy, Poland;2. Department of Gastroenterology and Hepatology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland;1. Department of Public Health, Faculty of Health Sciences, Medical University of Bialystok, Bialystok, Poland;2. Department of Immunology, Faculty of Pharmacy with the Division of Laboratory Medicine, Medical University of Bialystok, Bialystok, Poland;3. Department of Pharmaceutical Biochemistry, Faculty of Pharmacy with the Division of Laboratory Medicine, Medical University of Bialystok, Bialystok, Poland;1. Department of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland;2. Department of Pathomorphology, Medical University of Warsaw, Warsaw, Poland;3. 2nd Department of Clinical Radiology, Medical University of Warsaw, Warsaw, Poland;1. Centro de Investigaciones Biomédicas, Universidad Veracruzana, Xalapa Veracruz, Mexico;2. Department of Biosciences, Rajiv Gandhi University of Knowledge Technologies (RGUKT), Srikakulam, India;3. Análisis Clínicos, CP Lab, Xalapa Veracruz, Mexico;4. Laboratorio de Neuropatología Experimental, Instituto Nacional de Neurología y Neurocirugía “Manuel Velasco Suárez”, Mexico City, Mexico;5. Centro de Investigación Biomédica del Noreste, Instituto Mexicano del Seguro Social, Monterrey Nuevo León, Mexico;6. Unidad de Salud Integrativa, Centro de EcoAlfabetización y Diálogo de Saberes, Universidad Veracruzana, Xalapa Veracruz, Mexico;7. Departamento de Histología, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey Nuevo León, Mexico;8. Instituto de Neuroetología, Universidad Veracruzana, Xalapa Veracruz, Mexico;9. Cátedras CONACyT, Consejo Nacional de Ciencia y Tecnología (CONACYT), Mexico City, Mexico |
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| Abstract: | PurposeHigh myopia (HM) is an eye disorder with both environmental and genetic factors involved. Many genetic factors responsible for HM were recognized worldwide, but little is known about genetic variants underlying HM in Central Europe. Thus, the aim of this study was to identify rare sequence variants involved in HM in families from Central Europe to better understand the genetic basis of HM.Materials and methodsWe assessed 17 individuals from 7 unrelated Central European families with hereditary HM using exome sequencing (ES). Segregation of selected variants in other available family members was performed using Sanger sequencing.ResultsDetected 73 rare variants were selected for verification. We observed 2 missense variants, c.938C>T in SLC35E2B - encoding solute carrier family 35 member E2B, and c.1642G>C in FLRT3 - encoding fibronectin leucine rich transmembrane protein, segregating with HM in one family.ConclusionsFLRT3 ?and/or ?SLC35E2B ?could represent disease candidate genes and identified sequence variants might be responsible for HM in the studied family. |
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| Keywords: | High myopia Exome sequencing Myopia candidate gene |
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