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首页> 外文期刊>Journal of genetics >A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia
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A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia

机译：突尼斯患者中的一种新型DNAH5变体，患有初级睫状体的患者

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Primary ciliary dyskinesia (PCD) is a genetically heterogeneous hereditary disease caused by the structural abnormalities and dysfunction of motile cilia. The DNAH5 is the most frequently mutated gene in PCD patients and hot spot exons were reported in this gene. Here, we aim to screen mutations in a set of five hot spot exons of DNAH5 gene in a cohort of 10 clinically diagnosed Tunisian PCD patients using an optimized polymerase chain reaction-single-strand conformational polymorphism screening technique. Only one patient harboured a novel heterozygous variant in exon 63 (c.10767A[G), which was inherited from his father. This variant activates a cryptic splicing site. No deleterious mutation has been identified while screening the exons of the remaining patients. Our results show that the reported hot spot exons of DNAH5 gene are not mutated in Tunisian PCD patients. This is probably due to the differences of ethnical background of the previously reported patients. Further investigations should be performed to identify the mutations underlying PCD in this group of patients.
机译：原发性睫状剂量障碍（PCD）是由纤毛的结构异常和功能障碍引起的基因异质遗传性疾病。 DNAH5是PCD患者中最常见的基因，并在该基因中报道了热点外显子。在这里，我们的目标是使用优化的聚合酶链式反应 - 单链构象多态性筛选技术在10个临床诊断的突尼斯PCD患者中筛选DNAH5基因的一组五个热点外显子。只有一名患者在外显子63中覆盖了一种新型杂合变体（C.10767A [g），其继承自父亲。此变体激活隐蔽拼接站点。在筛选剩余患者的外显子时，没有发现任何有害的突变。我们的研究结果表明，突尼斯PCD患者报道的DNAH5基因的热点外显子不突变。这可能是由于先前报道的患者的族族背景的差异。应进行进一步的调查以鉴定该组患者的PCD潜在的突变。

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