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Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe
Polish Acad Sci, Poland.
Polish Acad Sci, Poland; Poznan Univ Med Sci, Poland.
Warsaw Univ Technol, Poland; Baylor Coll Med, TX 77030 USA.
Med Univ Warsaw, Poland.
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2021 (English)In: Advances in Medical Sciences, ISSN 1896-1126, E-ISSN 1898-4002, Vol. 66, no 1, p. 192-198Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
ELSEVIER URBAN & PARTNER SP Z O O , 2021. Vol. 66, no 1, p. 192-198
Keywords [en]
High myopia; Exome sequencing; FLRT3; SLC35E2B; Myopia candidate gene
National Category
Zoology
Identifiers
URN: urn:nbn:se:liu:diva-176002DOI: 10.1016/j.advms.2021.02.005ISI: 000646218100024PubMedID: 33711669OAI: oai:DiVA.org:liu-176002DiVA, id: diva2:1559313
Note

Funding Agencies|National Science Centre in PolandNational Science Centre, Poland [2013/08/T/NZ5/00754]; Ministry of Science and Higher Education in PolandMinistry of Science and Higher Education, Poland [27/GM/2017, 2 P05A 095 29]; United States National Institutes of Health, National Human Genome Research Institute/National Heart Lung and Blood Institute [UM1 HG006542]

Available from: 2021-06-02 Created: 2021-06-02 Last updated: 2021-06-02

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Frajdenberg, Agata
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Department of Ophthalmology in Linköping
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