Candidate gene analysis in three families with acilia syndrome

Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; Omran, Heymut; Blouin, Jean‐Louis; Willems, Patrick J.

doi:10.1002/ajmg.a.32340

Cited by 7 publications

(3 citation statements)

References 21 publications

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“…No examples of the rarer phenotypes reported in PCD such as abnormally long cilia, hockey stick cilia or ciliary aplasia were encountered 8 18. Examples of ciliary disorientation17 that were not evident on repeat sampling were considered to represent secondary changes.…”

Section: Resultsmentioning

confidence: 99%

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

et al. 2011

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Section: Resultsmentioning

confidence: 99%

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

et al. 2011

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“…A recent study demonstrated a genetic diagnosis involving one of the dynein proteins ( DNAH11 ), but normal ciliary ultrastructure and a subtle alteration in ciliary beat detectable by high-speed videomicroscopy [19**], demonstrating that ultrastructural analysis alone will not identify all PCD cases. Absence of cilia, or acilia syndrome, has been described in a few families [20]. …”

Section: Diagnostic Testsmentioning

confidence: 99%

Primary ciliary dyskinesia: improving the diagnostic approach

Leigh¹,

Zariwala²,

Knowles

2009

Current Opinion in Pediatrics

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Purpose of review The diagnosis of primary ciliary dyskinesia (PCD) has relied on analysis of ciliary motility and ultrastructure; however, these tests are not readily available and have not been standardized. Consequently, the diagnosis of PCD may be delayed or missed or made incorrectly. This review outlines the potential utility of new diagnostic tests, including measurement of nasal nitric oxide (NO) production and systematic analysis for mutations in gene encoding ciliary proteins. Recent findings Clinical manifestations of PCD have been expanded to include neonatal respiratory distress and heterotaxy. Measurement of nasal NO has emerged as a useful screening test for PCD based on the very low levels in PCD (approximately 1/10 of normal values). Genetic testing is emerging for PCD and demonstrates extensive genetic heterogeneity. Some genes and gene mutations involved in PCD have been defined. Approximately one third of PCD cases have identifiable gene mutations in one of 6 different genes. An international effort is focused on defining PCD-causing defects in other genes. Summary The incorporation of nasal NO measurement as a screening test to define probable PCD cases and gene mutation analysis to make a definitive diagnosis of PCD should enhance diagnostic evaluation of PCD.

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“…7,10,23 Ciliary aplasia, or complete absence of cilia, has also been described. 25 It can be challenging to obtain an adequate biopsy specimen with a sufficient number of cilia that are technically satisfactory for accurate interpretation. Significant expertise is required to produce high-quality transmission electron micrographs, which are adequate to distinguish between primary (''genetic'') and secondary (''nonspecific'') defects in ciliary ultrastructure 26 ( Table 1).…”

Section: Ciliary Ultrastructurementioning

confidence: 99%

Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists

Stillwell

Wartchow

Sagel

2011

Pediatric Allergy, Immunology, and Pulmonology

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Primary ciliary dyskinesia (PCD) is a rare genetic condition that causes impaired mucociliary clearance due to poorly functioning cilia. PCD is one disease manifestation of the many recently recognized associations with ciliary malfunction, referred to as ''ciliopathies.'' Manifestations of PCD commonly begin in the neonatal period with cough, pneumonia, and chronic ear infections or effusions. Approximately half of the affected individuals have situs inversus totalis. The diagnosis is often made in later childhood or early adulthood, because symptoms mimic more common childhood illnesses and because the definitive diagnosis of PCD can be challenging. Treatment recommendations are largely based on therapies used for other conditions with impaired mucociliary clearance in the absence of evidence-based research specific for PCD. Early recognition and initiation of both otolaryngologic and pulmonary management might reduce potential long-term morbidities. The purpose of this article is to update primary care providers, allergists, and pediatric pulmonologists on recent advances in this interesting condition.

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Candidate gene analysis in three families with acilia syndrome

Cited by 7 publications

References 21 publications

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

Primary ciliary dyskinesia: improving the diagnostic approach

Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists

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