|Title||Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.|
|Publication Type||Journal Article|
|Year of Publication||2021|
|Authors||Swierkowska, J, Karolak, JA, Gambin, T, Rydzanicz, M, Frajdenberg, A, Mrugacz, M, Podfigurna-Musielak, M, Stankiewicz, P, Lupski, JR, Gajecka, M|
|Journal||Adv Med Sci|
|Date Published||2021 Mar|
|Keywords||Adolescent, Europe, Exome, Female, Follow-Up Studies, Genetic Predisposition to Disease, Humans, Male, Membrane Glycoproteins, Mutation, Myopia, Pedigree, Prognosis, Solute Carrier Proteins|
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.
|Alternate Journal||Adv Med Sci|
Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.
|Chimeric RNAs reveal putative neoantigen peptides for developing tumor vaccines for breast cancer. Front Immunol. 2023;14:1188831..|
|Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality. Nat Commun. 2023;14(1):6113..|
|PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023;110(10):1787-1803..|