UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

Fassad, MR; Shoman, WI; Morsy, H; Patel, MP; Radwan, N; Jenkins, L; Cullup, T; ... Fasseeh, N; + view all (2020) Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. Clinical Genetics , 97 (3) pp. 509-515. 10.1111/cge.13661. Green open access

[thumbnail of Fassad_Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia_AAM.pdf]
Preview
Text
Fassad_Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia_AAM.pdf - Accepted Version

Download (1MB) | Preview

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disorder of motile cilia dysfunction generally inherited as an autosomal recessive disease. Genetic testing is increasingly considered an early step in the PCD diagnostic workflow. We used targeted panel next generation sequencing (NGS) for genetic screening of 33 Egyptian families with highly clinically suspected PCD. All variants prioritized were Sanger confirmed in the affected individuals and correctly segregated within the family. Targeted NGS yielded a high diagnostic output (70%) with bi‐allelic mutations identified in known PCD genes. Mutations were identified in 13 genes overall, with CCDC40 and CCDC39 the most frequently mutated genes among Egyptian patients. Most identified mutations were predicted null effect variants (79%) and not reported before (85%). This study reveals that the genetic landscape of PCD among Egyptians is highly heterogeneous, indicating that a targeted NGS approach covering multiple genes will provide a superior diagnostic yield than Sanger sequencing for genetic diagnosis. The high diagnostic output achieved here highlights the potential of placing genetic testing early within the diagnostic workflow for PCD, in particular in developing countries where other diagnostic tests can be less available.

Type: Article
Title: Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia
Location: Denmark
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/cge.13661
Publisher version: https://doi.org/10.1111/cge.13661
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Egypt, Genetics, Phenotype, Primary ciliary dyskinesia
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases > MRC Prion Unit at UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10084743
Downloads since deposit
87Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item