A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia

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.

Keywords

primary ciliary dyskinesia, DNAH5 gene, hot spot, splicing, single-strand conformation polymorphism, screening

Citation

Mani Rahma, Bouguila Jihe`Ne, Salma Ben Ameur, Hachicha Mongia, Soua Zohra, Mabrouk Imed. A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia. Journal of Genetics. 2020 Jan; 99: 1-5

URI

https://imsear.searo.who.int/handle/123456789/215560

Collections

Journal of Genetics

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