Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.

TitleVariants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.
Publication TypeJournal Article
Year of Publication2021
AuthorsSwierkowska, J, Karolak, JA, Gambin, T, Rydzanicz, M, Frajdenberg, A, Mrugacz, M, Podfigurna-Musielak, M, Stankiewicz, P, Lupski, JR, Gajecka, M
JournalAdv Med Sci
Volume66
Issue1
Pagination192-198
Date Published2021 Mar 09
ISSN1898-4002
Abstract

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.

DOI10.1016/j.advms.2021.02.005
Alternate JournalAdv Med Sci
PubMed ID33711669