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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
BMC Medical Genetics ( IF 2.023 ) Pub Date : 2020-07-18 , DOI: 10.1186/s12881-020-01087-x Yingjie Zhou 1 , Muhammad Tariq 2 , Sijie He 3, 4 , Uzma Abdullah 2 , Jianguo Zhang 3, 4 , Shahid Mahmood Baig 2
BMC Medical Genetics ( IF 2.023 ) Pub Date : 2020-07-18 , DOI: 10.1186/s12881-020-01087-x Yingjie Zhou 1 , Muhammad Tariq 2 , Sijie He 3, 4 , Uzma Abdullah 2 , Jianguo Zhang 3, 4 , Shahid Mahmood Baig 2
Affiliation
Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50–60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and efficient to screen all potential disease-causing genes for hereditary hearing loss by whole exome sequencing (WES). We collected 5 consanguineous pedigrees from Pakistan with hearing loss and applied WES in selected patients for each pedigree, followed by bioinformatics analysis and Sanger validation to identify the causal genes. Variants in 7 genes were identified and validated in these pedigrees. We identified single candidate variant for 3 pedigrees: GIPC3 (c.937 T > C), LOXHD1 (c.6136G > A) and TMPRSS3 (c.941 T > C). The remaining 2 pedigrees each contained two candidate variants: TECTA (c.4045G > A) and MYO15A (c.3310G > T and c.9913G > C) for one pedigree and DFNB59 (c.494G > A) and TRIOBP (c.1952C > T) for the other pedigree. The candidate variants were validated in all available samples by Sanger sequencing. The candidate variants in hearing-loss genes were validated to be co-segregated in the pedigrees, and they may indicate the aetiologies of hearing loss in such patients. We also suggest that WES may be a suitable strategy for hearing-loss gene screening in clinical detection.
中文翻译:
整个外显子组测序确定了导致五个近亲巴基斯坦家庭听力丧失的突变。
听力损失是最常见的感觉缺陷,它影响全球超过6%的人口。约有50-60%的听力损失患者是由于遗传原因引起的。目前,已经报道了导致非综合征性听力损失的100多个基因。通过全外显子组测序(WES)筛查所有潜在的致病基因,以进行遗传性听力丧失是可能且有效的。我们从巴基斯坦收集了5例有听力损失的近亲血统谱系,并在每个谱系的特定患者中应用了WES,然后进行了生物信息学分析和Sanger验证,以鉴定病因基因。在这些谱系中鉴定并验证了7个基因的变异。我们确定了3个家系的单个候选变体:GIPC3(c.937 T> C),LOXHD1(c.6136G> A)和TMPRSS3(c.941 T> C)。其余2个家谱各包含两个候选变体:一个谱系的TECTA(c.4045G> A)和MYO15A(c.3310G> T和c.9913G> C)和DFNB59(c.494G> A)和TRIOBP(c。 1952C> T)为其他谱系。通过Sanger测序在所有可用样品中验证了候选变体。听力损失基因的候选变体经过验证可以在血统书中共同分离,并且可以表明此类患者的听力损失的病因。我们还建议,WES可能是临床检测听力损失基因筛查的合适策略。通过Sanger测序在所有可用样品中验证了候选变体。听力损失基因的候选变体经过验证可以在血统书中共同分离,并且可以表明此类患者的听力损失的病因。我们还建议,WES可能是临床检测听力损失基因筛查的合适策略。通过Sanger测序在所有可用样品中验证了候选变体。听力损失基因的候选变体经过验证可以在血统书中共同分离,并且可以表明此类患者的听力损失的病因。我们还建议,WES可能是临床检测听力损失基因筛查的合适策略。
更新日期:2020-07-18
中文翻译:
整个外显子组测序确定了导致五个近亲巴基斯坦家庭听力丧失的突变。
听力损失是最常见的感觉缺陷,它影响全球超过6%的人口。约有50-60%的听力损失患者是由于遗传原因引起的。目前,已经报道了导致非综合征性听力损失的100多个基因。通过全外显子组测序(WES)筛查所有潜在的致病基因,以进行遗传性听力丧失是可能且有效的。我们从巴基斯坦收集了5例有听力损失的近亲血统谱系,并在每个谱系的特定患者中应用了WES,然后进行了生物信息学分析和Sanger验证,以鉴定病因基因。在这些谱系中鉴定并验证了7个基因的变异。我们确定了3个家系的单个候选变体:GIPC3(c.937 T> C),LOXHD1(c.6136G> A)和TMPRSS3(c.941 T> C)。其余2个家谱各包含两个候选变体:一个谱系的TECTA(c.4045G> A)和MYO15A(c.3310G> T和c.9913G> C)和DFNB59(c.494G> A)和TRIOBP(c。 1952C> T)为其他谱系。通过Sanger测序在所有可用样品中验证了候选变体。听力损失基因的候选变体经过验证可以在血统书中共同分离,并且可以表明此类患者的听力损失的病因。我们还建议,WES可能是临床检测听力损失基因筛查的合适策略。通过Sanger测序在所有可用样品中验证了候选变体。听力损失基因的候选变体经过验证可以在血统书中共同分离,并且可以表明此类患者的听力损失的病因。我们还建议,WES可能是临床检测听力损失基因筛查的合适策略。通过Sanger测序在所有可用样品中验证了候选变体。听力损失基因的候选变体经过验证可以在血统书中共同分离,并且可以表明此类患者的听力损失的病因。我们还建议,WES可能是临床检测听力损失基因筛查的合适策略。