Record ID

WUTce8d3af3e29843e7ac7acdd7186441b7

Author

Joanna Swierkowska Joanna Swierkowska,, Undefined Affiliation

Justyna A. Karolak Justyna A. Karolak,, Undefined Affiliation

Tomasz Gambin Tomasz Gambin,, The Institute of Computer Science (FEIT/ICS)Faculty of Electronics and Information Technology (FEIT)

Malgorzata Rydzanicz Malgorzata Rydzanicz,, Undefined Affiliation

Agata Frajdenberg Agata Frajdenberg,, Undefined Affiliation

Malgorzata Mrugacz Malgorzata Mrugacz,, Undefined Affiliation

Monika Podfigurna-Musielak Monika Podfigurna-Musielak,, Undefined Affiliation

P. Stankiewicz P. Stankiewicz,, Undefined Affiliation

James R. Lupski James R. Lupski,, Author's external affiliation: Human Genome Sequencing Center

Marzena Gajecka Marzena Gajecka,, Undefined Affiliation

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

2700 General Medicine

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

Ministerial score = 100.0, 23-05-2022, ArticleFromJournal

Publication indicators

Scopus Citations = 1; WoS Citations = 0; GS Citations = 1; Scopus SNIP: 2018 = 0.742; WoS Impact Factor: 2020 (2 years) = 3.287 - 2020 (5 years) =2.945

Citation count

1

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* 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.