使用外显子组测序在来自中欧的七个高度近视家系中鉴定到 FLRT3 和 SLC35E2B 的变异。
Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.
机构信息
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; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
出版信息
Adv Med Sci. 2021 Mar;66(1):192-198. doi: 10.1016/j.advms.2021.02.005. Epub 2021 Mar 9.
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.
目的
高度近视（HM）是一种涉及环境和遗传因素的眼部疾病。全球已经认识到许多导致 HM 的遗传因素，但对于中欧人群中 HM 的遗传变异知之甚少。因此，本研究的目的是鉴定中欧家族中与 HM 相关的罕见序列变异，以更好地了解 HM 的遗传基础。
材料和方法
我们使用外显子组测序（ES）评估了来自 7 个无血缘关系的中欧遗传性 HM 家族的 17 名个体。使用 Sanger 测序在其他可用的家族成员中进行了选定变异的分离。
结果
检测到 73 个罕见变体进行验证。我们观察到一个家族中存在 2 个错义变体，SLC35E2B 中的 c.938C>T - 编码溶质载体家族 35 成员 E2B，以及 FLRT3 中的 c.1642G>C - 编码纤维连接蛋白富含亮氨酸跨膜蛋白，与 HM 共分离。
结论
FLRT3 和/或 SLC35E2B 可能代表疾病候选基因，所鉴定的序列变异可能是研究家族中 HM 的原因。
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