PCD New Gene Discovery

2019-01-17 13:16:19 | BioPortfolio


This is a new gene discovery program for individuals with PCD who do not have a specific genetic etiology identified. Research procedures involve a single blood draw from the affected individual and from unaffected family members in an effort to identify new genetic targets.


The objective of this study is to better define how the genes that cause primary ciliary dyskinesia (PCD) are related to the clinical symptoms of individuals with PCD. PCD is a rare disease that affects the function of motor cilia throughout the body. This results in a variety of clinical symptoms, but chief among them are a chronic wet cough, recurrent sinusitis, and frequent pneumonia. These clinical symptoms can result in further structural lung disease, including bronchiectasis, with eventual worsening of lung function. The treatment for this condition largely focuses on augmenting airway clearance and appropriate use of antimicrobial therapies, in conjunction with monitoring for evidence of pulmonary impairment. Thus, it is important to identify and diagnose individuals with PCD early in life.

Making a diagnosis of PCD can be difficult as their is some overlap of the clinical symptoms with other conditions and there are limitation in the current diagnostic testing modalities. Historically, the diagnosis has been made by identification of structural abnormalities in cilia by electron microscopy (ciliary biopsy). However, this testing has limitations secondary to the somewhat invasive nature of the procedures and often inconclusive results secondary to sampling challenges (getting enough cilia). Furthermore, a normal ciliary biopsy result does not rule-out PCD as it is now known that there are individuals with PCD who have ciliary dysfunction secondary to ciliary abnormalities that are not routinely identified on standard electron micrograph. Genetic testing for PCD is available, but current testing only accounts for about 60-65% of the PCD population. Thus normal results in this regard do not rule-out PCD either. Nasal nitric oxide (nNO) testing is an emerging research-based testing that is being used more frequently to identify individuals with PCD. More specifically, it has been frequently observed that individuals with PCD have low levels of nitric oxide in their sinus cavities. Measuring a low level of nitric oxide of multiple different occasions has proven to have diagnostic utility in an individual with a clinical symptom history consistent with PCD. While nNO testing is helpful for identifying individuals likely to have PCD, this testing does not give further information as to reason for ciliary dysfunction. Current testing availability has resulted in a group of individuals who are being managed as "probable PCD" which is defined by having clinical symptoms consistent with PCD (such as year-round wet cough and rhinitis) at least two separate positive (low value) nNO testing results, but negative PCD genetics and a non diagnostic ciliary biopsy. While these individuals are often managed the same as other individuals with more defined PCD, including augmentation of airway clearance therapies, in order for more specific care to be applied in the future it is important to better define the ciliary structural reason for their clinical symptoms. This could also be described as needing to better understand the genotype-phenotype of all individuals with PCD.

This investigation seeks to better define the genotypic-phenotypic relationship of individuals by initially focusing on new gene discovery in individuals with probable PCD. More specifically, through whole-exome evaluation of individuals with probable PCD and unaffected first-degree relatives, we will focus on identifying new mutations in ciliary structural proteins and other related pulmonary genes. New gene targets will then be further studied through analysis of ciliary structure and function.

Study Design


Primary Ciliary Dyskinesia


There is no intervention


Vanderbilt Children's hospital
United States




Vanderbilt University Medical Center

Results (where available)

View Results


Published on BioPortfolio: 2019-01-17T13:16:19-0500

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Genetic Study of Patients With Primary Ciliary Dyskinesia

OBJECTIVES: I. Characterize the clinical presentation of patients with primary ciliary dyskinesia. II. Identify the genetic mutations associated with this disease.

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Medical and Biotech [MESH] Definitions

Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES.

A motility disorder characterized by biliary COLIC, absence of GALLSTONES, and an abnormal GALLBLADDER ejection fraction. It is caused by gallbladder dyskinesia and/or SPHINCTER OF ODDI DYSFUNCTION.

A ring of tissue extending from the scleral spur to the ora serrata of the retina. It consists of the uveal portion and the epithelial portion. The ciliary muscle is in the uveal portion and the ciliary processes are in the epithelial portion.

Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.

A ciliary neurotrophic factor receptor subunit. It is anchored to the cell surface via GLYCOSYLPHOSPHATIDYLINOSITOL LINKAGE and has specificity for binding to CILIARY NEUROTROPHIC FACTOR. It lacks signal transducing domains which are found on the other two subunits of the receptor.

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