PT  - JOURNAL ARTICLE
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
TI  - The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum
AID  - 10.1183/23120541.00714-2022
DP  - 2023 Mar 01
TA  - ERJ Open Research
PG  - 00714-2022
VI  - 9
IP  - 2
4099  - http://openres.ersjournals.com/content/9/2/00714-2022.short
4100  - http://openres.ersjournals.com/content/9/2/00714-2022.full
SO  - erjor2023 Mar 01; 9
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