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      https://www.ias.ac.in/article/fulltext/jgen/099/0004

    • Keywords

       

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

    • Abstract

       

      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.

    • Author Affiliations

       

      RAHMA MANI1 JIHÉNE BOUGUILA2 SALMA BEN AMEUR3 MONGIA HACHICHA3 ZOHRA SOUA1 IMED MABROUK1

      1. Faculté de Médecine de Sousse, Unité de recherché Biologie Moléculaire des Leucémies et Lymphomes’, UR14ES19, Université de Sousse, Sousse 4002, Tunisia
      2. Service de Pédiatrie, Centre Hospitalier Universitaire Farhat Hached, Sousse 4002, Tunisia
      3. Service de Pédiatrie, Centre Hospitalier Universitaire Hedi Chaker, Sfax 3089, Tunisia
    • Dates

       
  • Journal of Genetics | News

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