{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T22:53:16Z","timestamp":1770418396537,"version":"3.49.0"},"reference-count":42,"publisher":"BMJ","issue":"5","funder":[{"name":"NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London"},{"name":"NIHR Southampton Respiratory Biomedical Research Unit"},{"name":"Ministry of Higher Education in Egypt"},{"name":"British Council Newton-Mosharafa Fund"},{"name":"NIHR Wellcome Trust Clinical Research Facility"},{"DOI":"10.13039\/501100005188","name":"AAIR Charity","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005188","id-type":"DOI","asserted-by":"crossref"}]},{"name":"COST Action BEAT-PCD: Better Evidence to Advance Therapeutic options for PCD network"},{"name":"Great Ormond Street Children\u2019s Charity"},{"DOI":"10.13039\/501100000317","name":"Action Medical Research","doi-asserted-by":"crossref","award":["GN2101"],"award-info":[{"award-number":["GN2101"]}],"id":[{"id":"10.13039\/501100000317","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2019,11,1]]},"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Primary ciliary dyskinesia (PCD), a genetically heterogeneous condition enriched in some consanguineous populations, results from recessive mutations affecting cilia biogenesis and motility. Currently, diagnosis requires multiple expert tests.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The diagnostic utility of multigene panel next-generation sequencing (NGS) was evaluated in 161 unrelated families from multiple population ancestries.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Most (82%) families had affected individuals with biallelic or hemizygous (75%) or single (7%) pathogenic causal alleles in known PCD genes. Loss-of-function alleles dominate (73% frameshift, stop-gain, splice site), most (58%) being homozygous, even in non-consanguineous families. Although 57% (88) of the total 155 diagnostic disease variants were novel, recurrent mutations and mutated genes were detected. These differed markedly between white European (52% of families carry <jats:italic>DNAH5<\/jats:italic> or <jats:italic>DNAH11<\/jats:italic> mutations), Arab (42% of families carry <jats:italic>CCDC39<\/jats:italic> or <jats:italic>CCDC40<\/jats:italic> mutations) and South Asian (single <jats:italic>LRRC6<\/jats:italic> or <jats:italic>CCDC103<\/jats:italic> mutations carried in 36% of families) patients, revealing a striking genetic stratification according to population of origin in PCD. Genetics facilitated successful diagnosis of 81% of families with normal or inconclusive ultrastructure and 67% missing prior ultrastructure results.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This study shows the added value of high-throughput targeted NGS in expediting PCD diagnosis. Therefore, there is potential significant patient benefit in wider and\/or earlier implementation of genetic screening.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2019-106501","type":"journal-article","created":{"date-parts":[[2019,12,26]],"date-time":"2019-12-26T06:49:11Z","timestamp":1577342951000},"page":"322-330","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":74,"title":["Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort"],"prefix":"10.1136","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2568-8326","authenticated-orcid":false,"given":"Mahmoud R.","family":"Fassad","sequence":"first","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK"},{"name":"Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt"}]},{"given":"Mitali P.","family":"Patel","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK"}]},{"given":"Amelia","family":"Shoemark","sequence":"additional","affiliation":[{"name":"PCD Diagnostic Team and Department of Pediatric Respiratory Medicine, Royal Brompton and Harefield NHS Foundation Trust, London, UK"},{"name":"Division of Molecular and Clinical Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK"}]},{"given":"Thomas","family":"Cullup","sequence":"additional","affiliation":[{"name":"NE Thames Regional Molecular Genetics Laboratory, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK"}]},{"given":"Jane","family":"Hayward","sequence":"additional","affiliation":[{"name":"NE Thames Regional Molecular Genetics Laboratory, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK"}]},{"given":"Mellisa","family":"Dixon","sequence":"additional","affiliation":[{"name":"PCD Diagnostic Team and Department of Pediatric Respiratory Medicine, Royal Brompton and Harefield NHS Foundation Trust, London, UK"}]},{"given":"Andrew V.","family":"Rogers","sequence":"additional","affiliation":[{"name":"Host Defence Unit, Royal Brompton and Harefield NHS Trust, London, UK"}]},{"given":"Sarah","family":"Ollosson","sequence":"additional","affiliation":[{"name":"PCD Diagnostic Team and Department of Pediatric Respiratory Medicine, Royal Brompton and Harefield NHS Foundation Trust, London, UK"}]},{"given":"Claire","family":"Jackson","sequence":"additional","affiliation":[{"name":"Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust and Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK"},{"name":"NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK"}]},{"given":"Patricia","family":"Goggin","sequence":"additional","affiliation":[{"name":"Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust and Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK"},{"name":"NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK"}]},{"given":"Robert A.","family":"Hirst","sequence":"additional","affiliation":[{"name":"Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, University of Leicester, Leicester, UK"}]},{"given":"Andrew","family":"Rutman","sequence":"additional","affiliation":[{"name":"Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, University of Leicester, Leicester, UK"}]},{"given":"James","family":"Thompson","sequence":"additional","affiliation":[{"name":"Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust and Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK"},{"name":"NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK"}]},{"given":"Lucy","family":"Jenkins","sequence":"additional","affiliation":[{"name":"NE Thames Regional Molecular Genetics Laboratory, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK"}]},{"given":"Paul","family":"Aurora","sequence":"additional","affiliation":[{"name":"Department of Paediatric Respiratory Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"},{"name":"Department of Respiratory, Critical Care and Anaesthesia Unit, UCL Great Ormond Street Institute of Child Health, University College London, London, UK"}]},{"given":"Eduardo","family":"Moya","sequence":"additional","affiliation":[{"name":"Children's Services (Paediatrics), Bradford Royal Infirmary, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK"}]},{"given":"Philip","family":"Chetcuti","sequence":"additional","affiliation":[{"name":"Department of Respiratory Paediatrics, Leeds General Infirmary, Leeds Teaching Hospitals NHS Trust, Leeds, UK"}]},{"given":"Chris","family":"O'Callaghan","sequence":"additional","affiliation":[{"name":"Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, University of Leicester, Leicester, UK"},{"name":"Department of Respiratory, Critical Care and Anaesthesia Unit, UCL Great Ormond Street Institute of Child Health, University College London, London, UK"}]},{"given":"Deborah J","family":"Morris-Rosendahl","sequence":"additional","affiliation":[{"name":"Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Foundation Trust, London, UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2371-1844","authenticated-orcid":false,"given":"Christopher M.","family":"Watson","sequence":"additional","affiliation":[{"name":"Leeds Genetics Laboratory, Leeds Teaching Hospitals NHS Trust, Leeds, UK"}]},{"given":"Robert","family":"Wilson","sequence":"additional","affiliation":[{"name":"Host Defence Unit, Royal Brompton and Harefield NHS Trust, London, UK"}]},{"given":"Siobhan","family":"Carr","sequence":"additional","affiliation":[{"name":"PCD Diagnostic Team and Department of Pediatric Respiratory Medicine, Royal Brompton and Harefield NHS Foundation Trust, London, UK"}]},{"given":"Woolf","family":"Walker","sequence":"additional","affiliation":[{"name":"Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust and Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK"},{"name":"NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK"}]},{"given":"Andreia","family":"Pitno","sequence":"additional","affiliation":[{"name":"PCD Diagnostic Team and Department of Pediatric Respiratory Medicine, Royal Brompton and Harefield NHS Foundation Trust, London, UK"},{"name":"Laborat\u00f3rio de Histologia e Patologia Comparada, Instituto de Medicina Molecular, Centro Acad\u00e9mico de Medicina de Lisboa, Lisbon, Portugal"}]},{"given":"Susana","family":"Lopes","sequence":"additional","affiliation":[{"name":"CEDOC, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Nova de Lisboa, Lisbon, Portugal"}]},{"given":"Heba","family":"Morsy","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt"}]},{"given":"Walaa","family":"Shoman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Alexandria University Children's Hospital, Alexandria, Egypt"}]},{"given":"Luisa","family":"Pereira","sequence":"additional","affiliation":[{"name":"Paediatric Pulmonology Unit, Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Acad\u00e9mico de Medicina de Lisboa, Lisbon, Portugal"}]},{"given":"Carolina","family":"Constant","sequence":"additional","affiliation":[{"name":"Paediatric Pulmonology Unit, Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Acad\u00e9mico de Medicina de Lisboa, Lisbon, Portugal"}]},{"given":"Michael R.","family":"Loebinger","sequence":"additional","affiliation":[{"name":"Host Defence Unit, Royal Brompton and Harefield NHS Trust, London, UK"}]},{"given":"Eddie M.K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Population, Policy and Practice, UCL Great Ormond Street Institute of Child Health, University College London, London, 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