Mutational analysis of DNAI1 and DNAH5 hot-spot exons as a first-step genetic testing in primary ciliary dyskinesia

J. Djakow, T. Svobodova, J. Uhlik, P. Pohunek (Prague, Czech Republic)

Source: Annual Congress 2010 - Paediatric epidemiology: infection, prematurity and congenital abnormalities
Session: Paediatric epidemiology: infection, prematurity and congenital abnormalities
Session type: Thematic Poster Session
Number: 2721
Disease area: Paediatric lung diseases

Congress or journal article abstract

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
J. Djakow, T. Svobodova, J. Uhlik, P. Pohunek (Prague, Czech Republic). Mutational analysis of DNAI1 and DNAH5 hot-spot exons as a first-step genetic testing in primary ciliary dyskinesia. Eur Respir J 2010; 36: Suppl. 54, 2721

You must login to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.

Member's Comments

No comment yet.
You must Login to comment this presentation.


Related content which might interest you:
Genetic analysis of the mouse bradypneic (bd) mutation
Source: Annual Congress 2010 - Recent developments of molecular pathology and functional genomics in chronic and acute airway diseases
Year: 2010


Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia
Source: Virtual Congress 2020 – Tip the hat to paediatric bronchology
Year: 2020




Primary ciliary dyskinesia caused by loss-of-function GAS8 mutations due to defects of the nexin-dynein regulatory complex
Source: International Congress 2016 – Novel insights into alveolar and bronchial epithelial cell injury and repair
Year: 2016


Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia
Source: Eur Respir J, 58 (2) 2002359; 10.1183/13993003.02359-2020
Year: 2021



A rare genetic mutation in primary ciliary dyskinesia
Source: International Congress 2017 – Rare and common genetic variants of common and rare airway diseases
Year: 2017


Identification of multiple asthma susceptibility loci within the lmr1 locus on mouse chromosome 17
Source: Annual Congress 2010 - Genetics of obstruction
Year: 2010

Evaluation of four different molecular methods for EGFR mutation analysis in exon 18, 19 and 21
Source: Annual Congress 2011 - Lung cancer: molecular pathology and functional genomics
Year: 2011

Novel mutations in the folliculin gene associated with spontaneous pneumothorax
Source: Eur Respir J 2008; 32: 1316-1320
Year: 2008



A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia is associated with normal diagnostic investigations
Source: International Congress 2017 – Primary ciliary dyskinesia and air pollution
Year: 2017

Genotype-phenotype correlations in patients with primary ciliary dyskinesia with central complex defects related to RSPH1, RSPH4A or RSPH9 mutations
Source: International Congress 2014 – Molecular pathogenesis of pulmonary inflammatory diseases (COPD, asthma and ILD)
Year: 2014


The downstream effects of the 17q12-21 asthma region. Is functional splicing of GSDMB the explanation?
Source: Virtual Congress 2020 – Novel molecular markers and targets for asthma phenotypes
Year: 2020


Mutational screening in Italian patients with primary ciliary dyskinesia by next-generation sequencing (NGS)
Source: International Congress 2016 – Highlights in primary ciliary dyskinesia and asthma in childhood
Year: 2016

Genetic mutations and ciliary ultrastructure as possible determinants of lung function evolution in primary ciliary dyskinesia: a 40-year observational study
Source: Virtual Congress 2021 – Lung function evaluation and assessment of airway diseases
Year: 2021


The lueokocyte telomere length, single nucleotide polymorphisms near TERC gene and risk of COPD
Source: International Congress 2016 – Molecular targets in pulmonary disease
Year: 2016


Genetic mosaicism can delay the diagnosis of primary ciliary dyskinesia
Source: Eur Respir J 2005; 26: Suppl. 49, 629s
Year: 2005

Differentiation of primary and secondary ciliary dyskinesia with the quantitative analysis of ciliary elements
Source: Eur Respir J 2001; 18: Suppl. 33, 191s
Year: 2001

CCDC103 encodes a novel cilia dynein arm factor that is mutated in primary ciliary dyskinesia
Source: Annual Congress 2012 - COPD inflammation and genes
Year: 2012

Evaluation of PNA-LNA PCR clamp method sensitivity for detection of key EGFR gene exon 19 and exon 21 mutations
Source: Annual Congress 2012 - New results in molecular pathology and functional genomics of neoplastic and non-neoplastic lung disease
Year: 2012


Description of new CFTR gene’s mutations in patients of Russia
Source: Virtual Congress 2020 – Cystic fibrosis
Year: 2020


How insignificant are genetic variants of unknown significance in Primary Ciliary Dyskinesia?
Source: Virtual Congress 2020 – Chronic lung diseases: novel methods, diagnostics and biomarkers
Year: 2020