TY - JOUR T1 - The Palestinian primary ciliary dyskinesia population: first results of the diagnostic, and genetic spectrum JF - ERJ Open Research JO - erjor DO - 10.1183/23120541.00714-2022 SP - 00714-2022 AU - Nisreen Rumman AU - Mahmoud R. Fassad AU - Corine Driessens AU - Patricia Goggin AU - Nader Abdelrahman AU - Adel Adwan AU - Mutaz Albakri AU - Jagrati Chopra AU - Regan Doherty AU - Bishara Fashho AU - Grace M. Freke AU - Abdallah Hasaballah AU - Claire L Jackson AU - Mai A. Mohamed AU - Reda Abu Nema AU - Mitali P. Patel AU - Reuben J Pengelly AU - Ahmad Qaaqour AU - Bruna Rubbo AU - N. Simon Thomas AU - James Thompson AU - Woolf T. Walker AU - Gabrielle Wheway AU - Hannah M. Mitchison AU - Jane S. Lucas Y1 - 2023/01/01 UR - http://openres.ersjournals.com/content/early/2023/02/09/23120541.00714-2022.abstract N2 - Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic, and clinical spectrum of the Palestinian PCD population.Individuals with symptoms suggestive of PCD were opportunistically considered for diagnostic testing: nasal nitric oxide (nNO) measurement, transmission electron microscopy (TEM), and/or PCD genetic panel or whole exome testing. Clinical characteristics of those with a positive diagnosis were collected close to testing including FEV1 GLI z-scores, and BMI z-scores.Sixty-eight individuals had a definite positive PCD diagnosis, 31 confirmed by genetic and TEM results, 23 by TEM results alone, and 14 by genetic variants alone. Forty-five individuals from 40 families had seventeen clinically actionable variants, and 4 had variants of unknown significance in 14 PCD-genes. CCDC39, DNAH11, and DNAAF11 were the most commonly mutated genes. 100% of variants were homozygous. Patients had median age of 11.2 years at diagnosis, were highly consanguineous (93%) and 100% of Arabic descent. Clinical features included persistent wet cough (99%), neonatal respiratory distress (84%), and situs inversus (43%). Lung function at diagnosis was already impaired (FEV1 z-score median −1.90 (−5.0 to 1.32)) and growth was mostly within the normal range (z-score mean= −0.36 (−3.03 to 2.57). 19% individuals had finger clubbing.Despite limited local resources, detailed geno- and phenotyping forms the basis of one of the largest national PCD populations globally. There was notable familial homozygosity within the context of significant population heterogeneity.FootnotesThis manuscript has recently been accepted for publication in the ERJ Open Research. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJOR online. Please open or download the PDF to view this article. ER -