Genetic Diagnosis of Primary Ciliary Dyskinesia Using Next-generation Sequencer

2019 ◽  
Vol 70 (2) ◽  
pp. 193-194
Author(s):  
K. Takeuchi
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Genetic Diagnosis ◽  
Next Generation ◽  
Next Generation Sequencer ◽  
Ciliary Dyskinesia

scholarly journals Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel

2016 ◽  
Vol 18 (6) ◽  
pp. 912-922 ◽  
Author(s):  
Francesca Boaretto ◽  
Deborah Snijders ◽  
Cecilia Salvoro ◽  
Ambra Spalletta ◽  
Maria Luisa Mostacciuolo ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Primary Ciliary Dyskinesia ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Ciliary Dyskinesia ◽  
Generation Sequencing

Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia

2021 ◽  
Author(s):  
Noelia Baz-Redón ◽  
Sandra Rovira-Amigo ◽  
Ida Paramonov ◽  
Silvia Castillo-Corullón ◽  
Maria Cols-Roig ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Genetic Diagnosis ◽  
Gene Panel ◽  
Ciliary Dyskinesia

scholarly journals Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

2021 ◽  
pp. 2002359
Author(s):  
Amelia Shoemark ◽  
Bruna Rubbo ◽  
Marie Legendre ◽  
Mahmood R. Fassad ◽  
Eric G. Haarman ◽  
...  
Keyword(s):  
Data Analysis ◽  
Respiratory Distress ◽  
Primary Ciliary Dyskinesia ◽  
Genetic Diagnosis ◽  
Case Series ◽  
Topological Data Analysis ◽  
National Study ◽  
Neonatal Respiratory Distress ◽  
Ciliary Dyskinesia ◽  
Topological Data

BackgroundPrimary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutations in approximately 50 cilia-related genes. PCD genotype-phenotype relationships have mostly arisen from small case series because existing statistical approaches to investigate relationships have been unsuitable for rare diseases.MethodsWe applied a topological data analysis (TDA) approach to investigate genotype-phenotype relationships in PCD. Data from separate training and validation cohorts included 396 genetically defined individuals carrying pathogenic variants in PCD genes. To develop the TDA models, twelve clinical and diagnostic variables were included. TDA-driven hypotheses were subsequently tested using traditional statistics.ResultsDisease severity at diagnosis measured by FEV1 z-score was (i) significantly worse in individuals with CCDC39 mutations compared to other gene mutations and (ii) better in those with DNAH11 mutations; the latter also reported less neonatal respiratory distress. Patients without neonatal respiratory distress had better preserved FEV1 at diagnosis. Individuals with DNAH5 mutations were phenotypically diverse. Cilia ultrastructure and beat pattern defects correlated closely to specific causative gene groups, confirming these tests can be used to support a genetic diagnosis.ConclusionsThis large scale multi-national study presents PCD as a syndrome with overlapping symptoms and variation in phenotype, according to genotype. TDA modelling confirmed genotype-phenotype relationships reported by smaller studies (e.g. FEV1 worse with CCDC39 mutations), and identified new relationships, including FEV1 preservation with DNAH11 mutations and diversity of severity with DNAH5 mutations.

scholarly journals Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

2011 ◽  
Vol 13 (3) ◽  
pp. 218-229 ◽  
Author(s):  
Jonathan S Berg ◽  
James P Evans ◽  
Margaret W Leigh ◽  
Heymut Omran ◽  
Chris Bizon ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Genetic Mutations ◽  
Clinical Testing ◽  
Next Generation ◽  
Parallel Sequencing ◽  
Ciliary Dyskinesia

An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia

2015 ◽  
Vol 51 (5) ◽  
pp. 498-509 ◽  
Author(s):  
Jana Djakow ◽  
Lenka Kramná ◽  
Lenka Dušátková ◽  
Jiří Uhlík ◽  
Juha-Pekka Pursiheimo ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Primary Ciliary Dyskinesia ◽  
Next Generation ◽  
Effective Combination ◽  
Ciliary Dyskinesia ◽  
Generation Sequencing

Mutational screening in Italian patients with primary ciliary dyskinesia by next-generation sequencing (NGS)

2016 ◽  
Author(s):  
Deborah Snijders ◽  
Francesca Boaretto ◽  
Cecilia Salvoro ◽  
Angelo Barbato ◽  
Giovanni Vazza
Keyword(s):  
Next Generation Sequencing ◽  
Primary Ciliary Dyskinesia ◽  
Next Generation ◽  
Mutational Screening ◽  
Next Generation Sequencing Ngs ◽  
Ciliary Dyskinesia ◽  
Generation Sequencing

A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia

2018 ◽  
Vol 45 (3) ◽  
pp. 585-591 ◽  
Author(s):  
Kazuhiko Takeuchi ◽  
Masako Kitano ◽  
Hiroko Kiyotoshi ◽  
Koji Ikegami ◽  
Satoru Ogawa ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Primary Ciliary Dyskinesia ◽  
Japanese Patients ◽  
Next Generation ◽  
Novel Mutations ◽  
Targeted Next Generation Sequencing ◽  
Ciliary Dyskinesia ◽  
Generation Sequencing

Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia

2020 ◽  
Author(s):  
Sandra Rovira Amigo ◽  
Noelia Baz Redon ◽  
Núria Camats Tarruella ◽  
Mónica Fernández Cancio ◽  
Ida Paramonov ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Genetic Diagnosis ◽  
Gene Panel ◽  
Ciliary Dyskinesia

Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.

2019 ◽  
pp. 54-64
Author(s):  
Ahmad Alahmad ◽  
Hebatallah Muhammad ◽  
Angela Pyle ◽  
Buthaina Albash ◽  
Robert McFarland ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Middle East ◽  
Genetic Diagnosis ◽  
Mitochondrial Disorders ◽  
Next Generation ◽  
The Impact ◽  
Generation Sequencing ◽  
Arab Middle East
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