SCIENTIFIC BACKGROUND

CCDC103, CCDC39, DNAH5, DNAI1, RSPH1, SPAG1, ZMYND10

Category:

Scientific Background

Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder characterized by unmotile, dysmotile or absent cilia. Symptoms include neonatal respiratory distress, chronic upper and lower respiratory tract diseases, infertility, and situs abnormalities, which occur in about 50% of PCD patients and may be associated with congenital heart defects. When PCD occurs with laterally inverted positioning of the internal organs, it is called Kartagener syndrome. The clinical features of PCD can be subtle and highly variable, making diagnosis difficult. The prevalence of PCD is difficult to determine, as there was no accessible, standardized diagnostic approach in the past, but is estimated to be around 1:10,000-1:20,000.

 

Pathogenic variants have been identified in more than 30 genes associated with PCD and Kartagener syndrome. Most of the changes leading to PCD are loss-of-function variants (nonsense, frameshift or defective splice sites). In some cases, missense variants are detected, although in these cases it is often difficult to distinguish disease-causing variants from rare benign changes. Most causal variants are private. Clustering of variants in specific gene regions, as is known to occur in other genetic disorders, is less common. With the help of modern sequencing methods, it is possible to identify disease-causing biallelic variants in about 70% of those affected.

 

The term heterotaxy is used for patients with isolated situs inversus of various degrees; heart defects and other organ malformations such as asplenia or polysplenia are also often observed.

 

References

Mirra et al. 2017, Front Pediatr 5:135 / Butterfield 2017, Pediatr Rev 38:145 / Knowles et al. 2016, Clin Chest Med 37:449 / Marshall et al. 2015, G3 Bethesda 5:1775 / Lucas et al. 2014, Arch Dis Child 99:850 / Bush et Clogg 2012, Expert Rev Respir Med 6:663 / Kuehni et al. 2010, Eur Respir J 36:1248

GENES

CCDC103, CCDC39, DNAH5, DNAI1, RSPH1, SPAG1, ZMYND10

ASSOCIATED TESTS

How to order

LATEST ARTICLES

Overview In January 2024, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) published new recommendation...

Read more

Endometriosis is a chronic gynecological condition that affects 1 in 10 women of reproductive age worldwide [1]. It can manifest with the first menst...

Read more

Rare Disease Day is a global awareness day held annually to raise awareness of all rare diseases. It was first celebrated in 2008, on the rarest day ...

Read more

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more

Aneuploidies, such as translocations, whole or segmental chromosomal duplications, and deletions, are examples of chromosomal abnormalities that are ...

Read more