WHOLE-EXOME SEQUENCING AND RUNS OF HOMOZYGOSITY IDENTIFIES A NOVEL MUTATION OF DYX1C1 IN PRIMARY CILIARY DYSKINESIA FROM AN INBRED CHINESE FAMILY

Respirology ◽  
2017 ◽  
Vol 22 ◽  
pp. 171-171
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Primary Ciliary Dyskinesia ◽  
Novel Mutation ◽  
Chinese Family ◽  
Runs Of Homozygosity ◽  
Whole Exome ◽  
Ciliary Dyskinesia

scholarly journals Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia

2020 ◽  
Vol 6 (4) ◽  
pp. 00213-2020
Author(s):  
Alex Gileles-Hillel ◽  
Hagar Mor-Shaked ◽  
David Shoseyov ◽  
Joel Reiter ◽  
Reuven Tsabari ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Primary Ciliary Dyskinesia ◽  
Diagnostic Yield ◽  
Characteristic Curve ◽  
Transmission Electron Microscopy Analysis ◽  
Alternative Diagnosis ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Ciliary Dyskinesia

The diagnosis of primary ciliary dyskinesia (PCD) relies on clinical features and sophisticated studies. The detection of bi-allelic disease-causing variants confirms the diagnosis. However, a standardised genetic panel is not widely available and new disease-causing genes are continuously identified.To assess the accuracy of untargeted whole-exome sequencing (WES) as a diagnostic tool for PCD, patients with symptoms highly suggestive of PCD were consecutively included. Patients underwent measurement of nasal nitric oxide (nNO) levels, ciliary transmission electron microscopy analysis (TEM) and WES. A confirmed PCD diagnosis in symptomatic patients was defined as a recognised ciliary ultrastructural defect on TEM and/or two pathogenic variants in a known PCD-causing gene.Forty-eight patients (46% male) were enrolled, with a median age of 10.0 years (range 1.0–37 years). In 36 patients (75%) a diagnosis of PCD was confirmed, of which 14 (39%) patients had normal TEM. A standalone untargeted WES had a diagnostic yield of 94%, identifying bi-allelic variants in 11 known PCD-causing genes in 34 subjects. A nNO<77 nL·min was nonspecific when including patients younger than 5 years (area under the receiver operating characteristic curve (AUC) 0.75, 95% CI 0.60–0.90). Consecutive WES considerably improved the diagnostic accuracy of nNO in young children (AUC 0.97, 95% CI 0.93–1). Finally, WES established an alternative diagnosis in four patients.In patients with clinically suspected PCD and low nNO levels, WES is a simple, beneficial and accurate next step to confirm the diagnosis of PCD or suggest an alternative diagnosis, especially in preschool-aged children in whom nNO is less specific.

scholarly journals Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

2014 ◽  
Vol 15 (8) ◽  
pp. 727-734 ◽  
Author(s):  
Nan Hong ◽  
Yan-hua Chen ◽  
Chen Xie ◽  
Bai-sheng Xu ◽  
Hui Huang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Novel Mutation ◽  
Chinese Family ◽  
Whole Exome
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