全外显子组测序突出了约旦家庭中与圆锥角膜相关的变异。

4区医学 Q4 Medicine BMC Medical Genetics Pub Date : 2020-09-04 DOI:10.1186/s12881-020-01112-z

Tawfiq Froukh, Ammar Hawwari, Khalid Al Zubi

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引用次数: 7

摘要

背景:圆锥角膜(KC)通常是双侧、非炎症性进行性角膜扩张，其中角膜逐渐变薄和圆锥形，导致近视、不规则散光和角膜瘢痕。方法:对8个具有近亲婚姻和/或多重角膜移植个体特征的家庭进行遗传检查。全外显子组测序按每个家族三组或四组进行。基于小等位基因频率(minor allele frequency, MAF)，纯合子变异小于0.01，杂合子变异MAF等于0，过滤过程的输出是22个错义变异。结果:基于基因/蛋白功能，在4个家族中突出了5个候选变异。在MYOF和STX2基因的一个家族中突出了两个变体，在COL6A5、ZNF676和ZNF765基因的其他三个家族中各突出了一个变体。结论:本研究是一项非常罕见的强调与KC相关的遗传变异的研究。

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Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families.

Background: Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring.

Methods: Eight families characterized by consanguineous marriages and/or multiple keratoconic individuals were examined genetically. Whole exome sequencing was done as trio or quadro per family. The output of the filtration procedure, based on minor allele frequency (MAF) less than 0.01 for homozygous variants and MAF equals 0 for heterozygous variants, is 22 missense variants.

Results: Based on the gene/protein function five candidate variants were highlighted in four families. Two variants were highlighted in one family within the genes MYOF and STX2, and one variant is highlighted in each of the other three families within the genes: COL6A5, ZNF676 and ZNF765.

Conclusion: This study is one of the very rare that highlights genetic variants in association with KC.

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来源期刊

BMC Medical Genetics 医学-遗传学

自引率

0.00%

发文量

审稿时长

12 months

期刊介绍： BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease. Note: BMC Medical Genetics is now closed. This journal has merged with BMC Medical Genomics, a broad-scope, open access community journal for all medical genetics and genomics research.