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首页> 外文期刊>BMC Medical Genomics >A splice-site variant (c.3289-1GT) in OTOF underlies profound hearing loss in a Pakistani kindred
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A splice-site variant (c.3289-1GT) in OTOF underlies profound hearing loss in a Pakistani kindred

机译：在OTOF中的拼接站点变体（C.3289-1G＆ t）下潜在巴基斯坦被称为巴基斯坦的深刻听力损失

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Hearing loss/deafness is a common otological disorder found in the Pakistani population due to the high prevalence of consanguineous unions, but the full range of genetic causes is still unknown. A large consanguineous Pakistani kindred with hearing loss was studied. Whole-exome sequencing and Sanger sequencing were performed to search for the candidate gene underlying the disease phenotype. A minigene assay and reverse transcription polymerase chain reaction was used to assess the effect of splicing variants. The splicing variants of OTOF (NM_194248, c.3289-1GT) cosegregated with the disease phenotype in this Pakistani family. The substitution of a single base pair causes the deletion of 10?bp (splicing variant 1) or 13?bp (splicing variant 2) from exon 27, which results in truncated proteins of 1141 and 1140 amino acids, respectively. Our findings reveal an OTOF splice-site variant as pathogenic for profound hearing loss in this family.
机译：听力损失/耳聋是在巴基斯坦人口中发现的常见耳动障碍，由于近亲的工会的普及率高，但全方位的遗传原因仍然未知。 研究了与听力损失有关的大近亲巴基斯坦。 进行全面测序和Sanger测序以搜索疾病表型以下的候选基因。 使用微型测定和逆转录聚合酶链反应来评估剪接变体的作用。 OTOF的拼接变体（NM_194248，C.3289-1G＆ t）在巴基斯坦家族中与疾病表型进行COSEGREGETED。 单个碱对的取代导致来自外显子27的10·BP（拼接变体1）或13·BP（拼接变体2），这分别导致1141和1140氨基酸的截短蛋白质。 我们的研究结果揭示了OTOF剪接现场变体，因为这家族中的深刻听力损失是致病性。

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