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Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe
Authors:
- Joanna Swierkowska,
- Justyna A. Karolak,
- Tomasz Gambin,
- Malgorzata Rydzanicz,
- Agata Frajdenberg,
- Malgorzata Mrugacz,
- Monika Podfigurna-Musielak,
- P. Stankiewicz,
- James R. Lupski,
- Marzena Gajecka
- Record ID
- WUTce8d3af3e29843e7ac7acdd7186441b7
- Author
- Journal series
- Advances in Medical Sciences, ISSN 1896-1126, e-ISSN 1898-4002
- Issue year
- 2021
- Vol
- 66
- No
- 1
- Pages
- 192-198
- ASJC Classification
- Abstract in original language
- 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.
- DOI
- DOI:10.1016/j.advms.2021.02.005 Opening in a new tab
- URL
- https://www.sciencedirect.com/science/article/pii/S1896112621000134?via%3Dihub Opening in a new tab
- Language
- eng (en) English
- Score (nominal)
- 100
- Score source
- journalList
- Score
- = 100.0, 08-06-2021, ArticleFromJournal
- Publication indicators
- : 2018 = 0.742; : 2019 = 2.570 (2) - 2019=2.011 (5)
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- Uniform Resource Identifier
- https://repo.pw.edu.pl/info/article/WUTce8d3af3e29843e7ac7acdd7186441b7/
- URN
urn:pw-repo:WUTce8d3af3e29843e7ac7acdd7186441b7
* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or PerishOpening in a new tab system.