Welcome to CIDeRplus

Field	Query

	Field	Term

General Information:

Id:	9,896
Diseases:	Ciliary dyskinesia, primary Ciliopathy
Organism:	Homo sapiens
Publication type:	article
Reference:	Fedick AM et al.(2015) Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population Mol Genet Genomic Med 3: 137-142 [PMID: 25802884]

Interaction Information:

Comment	Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Patients with PCD have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, situs inversus, heterotaxy with or without congenital heart disease, and male infertility, among others. In this report, the carrier frequencies for eleven mutations in eight PCD-associated genes (DNAI1, DNAI2, DNAH5, DNAH11, CCDC114, CCDC40, CCDC65, and C21orf59) that had been found in individuals of Ashkenazi Jewish descent were investigated in order to advise on including them in existing clinical mutation panels for this population. The carrier frequency results were as follows: 0.28% for the DNAI1 c.1490G>A mutation, 0.50% for the DNAI2 c.1304G>A mutation, 0.10% for the DNAH11 c.11929G>T mutation, 0.58% for the DNAH5 c.7502G>C mutation, 0.19% for the CCDC114 c.939delT mutation, 0.29% for the CCDC65 c.877_878delAT mutation, and 0.48% for the C21orf59 c.735C>G mutation.
Formal Description Interaction-ID: 103851	gene/protein DNAI1 affects_activity of disease Ciliary dyskinesia, primary, 1 in Ashkenazi jews

Comment	Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Patients with PCD have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, situs inversus, heterotaxy with or without congenital heart disease, and male infertility, among others. In this report, the carrier frequencies for eleven mutations in eight PCD-associated genes (DNAI1, DNAI2, DNAH5, DNAH11, CCDC114, CCDC40, CCDC65, and C21orf59) that had been found in individuals of Ashkenazi Jewish descent were investigated in order to advise on including them in existing clinical mutation panels for this population. The carrier frequency results were as follows: 0.28% for the DNAI1 c.1490G>A mutation, 0.50% for the DNAI2 c.1304G>A mutation, 0.10% for the DNAH11 c.11929G>T mutation, 0.58% for the DNAH5 c.7502G>C mutation, 0.19% for the CCDC114 c.939delT mutation, 0.29% for the CCDC65 c.877_878delAT mutation, and 0.48% for the C21orf59 c.735C>G mutation.
Formal Description Interaction-ID: 103978	gene/protein DNAI2 affects_activity of disease Ciliary dyskinesia, primary, 9 in Ashkenazi jews

Comment	Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Patients with PCD have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, situs inversus, heterotaxy with or without congenital heart disease, and male infertility, among others. In this report, the carrier frequencies for eleven mutations in eight PCD-associated genes (DNAI1, DNAI2, DNAH5, DNAH11, CCDC114, CCDC40, CCDC65, and C21orf59) that had been found in individuals of Ashkenazi Jewish descent were investigated in order to advise on including them in existing clinical mutation panels for this population. The carrier frequency results were as follows: 0.28% for the DNAI1 c.1490G>A mutation, 0.50% for the DNAI2 c.1304G>A mutation, 0.10% for the DNAH11 c.11929G>T mutation, 0.58% for the DNAH5 c.7502G>C mutation, 0.19% for the CCDC114 c.939delT mutation, 0.29% for the CCDC65 c.877_878delAT mutation, and 0.48% for the C21orf59 c.735C>G mutation.
Formal Description Interaction-ID: 103979	gene/protein DNAH11 affects_activity of disease Ciliary dyskinesia, primary, 7 in Ashkenazi jews

Comment	Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Patients with PCD have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, situs inversus, heterotaxy with or without congenital heart disease, and male infertility, among others. In this report, the carrier frequencies for eleven mutations in eight PCD-associated genes (DNAI1, DNAI2, DNAH5, DNAH11, CCDC114, CCDC40, CCDC65, and C21orf59) that had been found in individuals of Ashkenazi Jewish descent were investigated in order to advise on including them in existing clinical mutation panels for this population. The carrier frequency results were as follows: 0.28% for the DNAI1 c.1490G>A mutation, 0.50% for the DNAI2 c.1304G>A mutation, 0.10% for the DNAH11 c.11929G>T mutation, 0.58% for the DNAH5 c.7502G>C mutation, 0.19% for the CCDC114 c.939delT mutation, 0.29% for the CCDC65 c.877_878delAT mutation, and 0.48% for the C21orf59 c.735C>G mutation.
Formal Description Interaction-ID: 103980	gene/protein DNAH5 affects_activity of disease Ciliary dyskinesia, primary, 3 in Ashkenazi jews

Comment	Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Patients with PCD have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, situs inversus, heterotaxy with or without congenital heart disease, and male infertility, among others. In this report, the carrier frequencies for eleven mutations in eight PCD-associated genes (DNAI1, DNAI2, DNAH5, DNAH11, CCDC114, CCDC40, CCDC65, and C21orf59) that had been found in individuals of Ashkenazi Jewish descent were investigated in order to advise on including them in existing clinical mutation panels for this population. The carrier frequency results were as follows: 0.28% for the DNAI1 c.1490G>A mutation, 0.50% for the DNAI2 c.1304G>A mutation, 0.10% for the DNAH11 c.11929G>T mutation, 0.58% for the DNAH5 c.7502G>C mutation, 0.19% for the CCDC114 c.939delT mutation, 0.29% for the CCDC65 c.877_878delAT mutation, and 0.48% for the C21orf59 c.735C>G mutation.
Formal Description Interaction-ID: 103981	gene/protein CCDC114 affects_activity of disease Ciliary dyskinesia, primary, 20 in Ashkenazi jews

Comment	Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Patients with PCD have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, situs inversus, heterotaxy with or without congenital heart disease, and male infertility, among others. In this report, the carrier frequencies for eleven mutations in eight PCD-associated genes (DNAI1, DNAI2, DNAH5, DNAH11, CCDC114, CCDC40, CCDC65, and C21orf59) that had been found in individuals of Ashkenazi Jewish descent were investigated in order to advise on including them in existing clinical mutation panels for this population. The carrier frequency results were as follows: 0.28% for the DNAI1 c.1490G>A mutation, 0.50% for the DNAI2 c.1304G>A mutation, 0.10% for the DNAH11 c.11929G>T mutation, 0.58% for the DNAH5 c.7502G>C mutation, 0.19% for the CCDC114 c.939delT mutation, 0.29% for the CCDC65 c.877_878delAT mutation, and 0.48% for the C21orf59 c.735C>G mutation.
Formal Description Interaction-ID: 103982	gene/protein CCDC65 affects_activity of disease Ciliary dyskinesia, primary, 27 in Ashkenazi jews

Comment	Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Patients with PCD have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, situs inversus, heterotaxy with or without congenital heart disease, and male infertility, among others. In this report, the carrier frequencies for eleven mutations in eight PCD-associated genes (DNAI1, DNAI2, DNAH5, DNAH11, CCDC114, CCDC40, CCDC65, and C21orf59) that had been found in individuals of Ashkenazi Jewish descent were investigated in order to advise on including them in existing clinical mutation panels for this population. The carrier frequency results were as follows: 0.28% for the DNAI1 c.1490G>A mutation, 0.50% for the DNAI2 c.1304G>A mutation, 0.10% for the DNAH11 c.11929G>T mutation, 0.58% for the DNAH5 c.7502G>C mutation, 0.19% for the CCDC114 c.939delT mutation, 0.29% for the CCDC65 c.877_878delAT mutation, and 0.48% for the C21orf59 c.735C>G mutation.
Formal Description Interaction-ID: 103983	gene/protein CFAP298 affects_activity of disease Ciliary dyskinesia, primary, 26 in Ashkenazi jews

Home
Contact

The Helmholtz Zentrum München Imprint and Privacy Policy apply.

© 2013 - Helmholtz Zentrum München - German Research Center for Environmental Health (GmbH) Ingolstädter Landstraße 1, D-85764 Neuherberg, Germany

Disclaimer: IBIS Databases and associated information are protected by copyright. This server and its associated data and services are for academic, non-commercial use only. The Helmholtz Zentrum München has no liability for the use of results, data or information which have been provided through this server. Neither the use for commercial purposes, nor the redistribution of IBIS database files to third parties nor the distribution of parts of files or derivative products to any third parties is permitted. Commercial users shall contact the Helmholtz Zentrum München for a separate users license.