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

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 rando m determination of left-right asymmetry, and a complete absence of cilia. T he human FOXJ1 gene which maps to chromosome 17q, is thus an excellent cand idate gene for Kartagener Syndrome (KS), a subphenotype of Primary Ciliary Dyskinesia (PCD), characterized by bronchiectasis, chronic sinusitis and si tus inversus. We have collected samples from 61 PCD families, in 31 of whic h there are at least two affected individuals. Two families with complete a ciliogenesis, and six families, in which the affected members have microsat ellite alleles concordant for a locus on distal chromosome 17q, were screen ed for mutations in the two exons and intron-exon junctions of the FOXJ1 ge ne. No sequence abnormalities were observed in the DNAs of the affected ind ividuals of the selected families. These results demonstrate that the FOXJ1 gene is not responsible for the PCD/KS phenotype in the families examined. Copyright (C) 2000 S.Karger AG, Basel.