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

doi:10.1016/j.advms.2021.02.005

. 2021 Mar;66(1):192-198.

doi: 10.1016/j.advms.2021.02.005. Epub 2021 Mar 9.

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

Affiliations

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; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
³ Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
⁴ Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
⁵ Department of Ophthalmology, Linköping University, Linköping, Sweden; Department of Ophthalmology, Namsos Hospital, Namsos, Norway.
⁶ Department of Ophthalmology and Eye Rehabilitation, Medical University of Bialystok, Bialystok, Poland.
⁷ Medical Centre Vigor Med, Leszno, Poland.
⁸ Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
⁹ Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
¹⁰ Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland; Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland. Electronic address: gamar@man.poznan.pl.

PMID: 33711669
DOI: 10.1016/j.advms.2021.02.005

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

Joanna Swierkowska et al. Adv Med Sci. 2021 Mar.

. 2021 Mar;66(1):192-198.

doi: 10.1016/j.advms.2021.02.005. Epub 2021 Mar 9.

Affiliations

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; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
³ Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
⁴ Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
⁵ Department of Ophthalmology, Linköping University, Linköping, Sweden; Department of Ophthalmology, Namsos Hospital, Namsos, Norway.
⁶ Department of Ophthalmology and Eye Rehabilitation, Medical University of Bialystok, Bialystok, Poland.
⁷ Medical Centre Vigor Med, Leszno, Poland.
⁸ Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
⁹ Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
¹⁰ Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland; Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland. Electronic address: gamar@man.poznan.pl.

PMID: 33711669
DOI: 10.1016/j.advms.2021.02.005

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.

Keywords: Exome sequencing; FLRT3; High myopia; Myopia candidate gene; SLC35E2B.

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Conflict of interest statement

Declaration of competing interest The authors declare no conflict of interests.

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

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

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