Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe
| Autor: | Małgorzata Rydzanicz, Monika Podfigurna-Musielak, James R. Lupski, Justyna A. Karolak, Joanna Swierkowska, Małgorzata Mrugacz, Marzena Gajecka, Pawel Stankiewicz, Tomasz Gambin, Agata Frajdenberg |
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| Rok vydání: | 2021 |
| Předmět: |
Male
Candidate gene Adolescent Disease 03 medical and health sciences symbols.namesake 0302 clinical medicine Myopia Humans Missense mutation Medicine Exome Genetic Predisposition to Disease 030212 general & internal medicine Exome sequencing Sequence (medicine) Solute Carrier Proteins Sanger sequencing Genetics Membrane Glycoproteins business.industry General Medicine Prognosis Pedigree Solute carrier family Europe 030220 oncology & carcinogenesis Mutation symbols Eye disorder Female business Follow-Up Studies |
| Zdroj: | Advances in Medical Sciences. 66:192-198 |
| ISSN: | 1896-1126 |
| DOI: | 10.1016/j.advms.2021.02.005 |
| Popis: | Purpose High 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 methods We 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. Results Detected 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. Conclusions FLRT3 and/or SLC35E2B could represent disease candidate genes and identified sequence variants might be responsible for HM in the studied family. |
| Databáze: | OpenAIRE |
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