Primary Ciliary Dyskinesia (PCD, OMIM #242650 ) or Immotile Cilia Syndrome (ICS) is an hereditary condition affecting the motility of ciliary and spermatozoa flagella. The disorder, transmitted in an autosomal recessive mode, has an incidence of 16,000-30,000. Dysmotility to complete immotility of cilia and flagella results in multisystemic disease of varying severity, characterized by infections of the upper respiratory tract, bronchiectasis, and male sterility. When heterotaxia (situs inversus) is associated, as in in up to half of patients, PCD is also referred to as Kartagener syndrome (OMIM #244400 ). The condition is most often associated with ultrastructural defects of axoneme, the skeleton of cilia and flagella, which is constituted of several families of proteins including dyneins, kinesin and microtubule-associated proteins (MAPs).
Our recent genome-wide linkage studies in over 30 families identified several chromosomal regions which may anchor genes linked to the phenotype, suggesting that the disease is genetically highly heterogeneous1. These results, were compatible with the localization of several dynein genes, long standing candidates for PCD since roughly half of the structural defects are in the dynein arm. Indeed, in the last few months, we and others have found mutations in 3 distinct axonemal dynein genes (DNAI1, DNAH11, DNAH5) in Kartagener syndrome. Since each of these mutations was observed in only few families thusfar, other genes, probably including additional isoforms of dynein, must also be responsible for PCD. Multiple dynein proteins are encoded by a family of distinct genes mapping to different chromosomes.
et al. 2000)
Call to collaboration
Study of the genetic etiology
of Primary Ciliary Dyskinesia : A summary
of progress in the identification of disease-causing genes, November 2001.
This bulletin was sent to physicians who collaborated to our research project on PCD. This document provide informations also that physicians are encouraged to forward to the patients and families who where included in the study.
A list of publications on Kartagener Syndrome Project by the group.
A gene that contributes to heart laterality and is responsible for some cases of Kartagener syndrome, was identified by researchers in the Division of Medical Genetics of the University of Geneva Medical School and collaborators.
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