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Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous ciliopathy. Dysfunction of motile respiratory and nodal cilia results in sinopulmonary symptoms associated with laterality defects (LD) found in half of the patients. The molecular basis of the disease is insufficiently investigated in patients originating from the Arabian Peninsula. In a group of 16 unrelated Saudi patients clinically suspected of PCD and among whom only 5 (31%) had LD, we first screened by PCR-RFLP two founder mutations, RSPH9 c.804_806del and CCDC39 c.2190del previously identified in patients from the Arabian Peninsula and Tunisia, respectively. When negative, targeted panel or whole-exome sequencing was performed. Three patients were homozygous for the mutation in RSPH9, which encodes an axonemal protein that is absent from nodal cilia. None of the patients carried the CCDC39 founder mutation frequent in Tunisia. NGS analysis showed that nine patients had homozygous mutations in PCD genes. In total, sequential RFLP and NGS analysis solved 75% (12/16) of cases and identified ten distinct mutations, among which six are novel, in nine different genes. These results, which highlight the genetic heterogeneity of PCD in Saudi Arabia, show that the RSPH9 c.804_806del mutation is a prevalent mutation among Saudi patients, whereas the CCDC39 c.2190del ancestral allele is most likely related to the Berber population. This study shows that RSPH9 founder mutation first-line screening and NGS analysis is efficient for the genetic exploration of PCD in Saudi patients. The RSPH9 founder mutation accounts for the low rate of LD among Saudi patients., (© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)

Background: Most common sought antibiotic-self treated infection globally is pharyngitis (sore throat). The aim of this study is to assess public's acceptance and potential use of Rapid Antigen Detection Test at community pharmacies in the diagnosis of bacterial pharyngitis in children prior to antibiotic dispensing in Saudi Arabia., Method: A qualitative cross-sectional study was conducted on October 2017. Two self-conducted questionnaires were used. One targeted the public above 21 years old and was distributed via social media. The other randomly targeted community pharmacists in Jeddah., Result: A total of 689 of the public and 40 community pharmacists completed the survey. Moreover, 571 (82.9%) of the public received antibiotics without a prescription; for symptoms related to sore throat (71%) followed by flu-like symptoms (24%). Only (3.77%) and (5%) of both public and community pharmacies have heard about RADT respectively, however the majority (93.03%) and (90%) of both respectively support its use in community pharmacies. Coded reasons for its use was mainly to decrease antibiotic misuse and/or abuse, increased specificity, decreased antibiotic side effects including bacterial resistance, and ease of use., Conclusion: Both public and community pharmacists support the idea of using RADT. Future efforts should look into pharmacist's role in providing point of care tests that are cost-effective and convenient for the public., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2021 The Author(s).)