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No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD)

Maiti A.K.a · Bartoloni L.a · Mitchison H.M.b · Meeks M.b · Chung E.b · Spiden S.b · Gehrig C.a · Rossier C.a · DeLozier-Blanchet C.D.a · Blouin J.-L.a · Gardiner R.M.b · Antonarakis S.E.a

Author affiliations

aDivision of Medical Genetics, University of Geneva Medical School and Cantonal Hospital (Switzerland); bDepartment of Pediatrics, Royal Free and University College Medical School, University College London (UK)

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Cytogenet Cell Genet 90:119–122 (2000)

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: October 06, 2000
Issue release date: 2000

Number of Print Pages: 4
Number of Figures: 1
Number of Tables: 2

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

Abstract.

The transcription factor FOXJ1 (alias HFH-4 or FKHL13) of the winged-helix/forkhead family is expressed in cells with cilia or flagella, and seems to be involved in the regulation of axonemal structural proteins. The knockout mouse Foxj1–/– shows abnormalities of organ situs, consistent with random determination of left-right asymmetry, and a complete absence of cilia. The human FOXJ1 gene which maps to chromosome 17q, is thus an excellent candidate gene for Kartagener Syndrome (KS), a subphenotype of Primary Ciliary Dyskinesia (PCD), characterized by bronchiectasis, chronic sinusitis and situs inversus. We have collected samples from 61 PCD fami- lies, in 31 of which there are at least two affected individuals. Two families with complete aciliogenesis, and six families, in which the affected members have microsatellite alleles concordant for a locus on distal chromosome 17q, were screened for mutations in the two exons and intron-exon junctions of the FOXJ1 gene. No sequence abnormalities were observed in the DNAs of the affected individuals of the selected families. These results demonstrate that the FOXJ1 gene is not responsible for the PCD/KS phenotype in the families examined.   

© 2000 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: October 06, 2000
Issue release date: 2000

Number of Print Pages: 4
Number of Figures: 1
Number of Tables: 2

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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