RT Journal Article SR Electronic T1 The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum JF ERJ Open Research JO erjor FD European Respiratory Society SP 00714-2022 DO 10.1183/23120541.00714-2022 VO 9 IS 2 A1 Rumman, Nisreen A1 Fassad, Mahmoud R. A1 Driessens, Corine A1 Goggin, Patricia A1 Abdelrahman, Nader A1 Adwan, Adel A1 Albakri, Mutaz A1 Chopra, Jagrati A1 Doherty, Regan A1 Fashho, Bishara A1 Freke, Grace M. A1 Hasaballah, Abdallah A1 Jackson, Claire L. A1 Mohamed, Mai A. A1 Abu Nema, Reda A1 Patel, Mitali P. A1 Pengelly, Reuben J. A1 Qaaqour, Ahmad A1 Rubbo, Bruna A1 Thomas, N. Simon A1 Thompson, James A1 Walker, Woolf T. A1 Wheway, Gabrielle A1 Mitchison, Hannah M. A1 Lucas, Jane S. YR 2023 UL http://openres.ersjournals.com/content/9/2/00714-2022.abstract AB Background 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.Methods 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 forced expiratory volume in 1 s (FEV1) Global Lung Index z-scores and body mass index z-scores.Results 68 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. 45 individuals from 40 families had 17 clinically actionable variants and four 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 a median age of 10.0 years at diagnosis, were highly consanguineous (93%) and 100% were 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 (−5.0–1.32)) and growth was mostly within the normal range (z-score mean −0.36 (−3.03–2.57). 19% individuals had finger clubbing.Conclusions Despite limited local resources in Palestine, 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.Despite limited resources in Palestine, detailed geno- and phenotyping forms the basis of one of the largest national PCD cohorts globally. There is notable familial homozygosity within the context of significant population heterogeneity. https://bit.ly/3HTo96x