SCIENTIFIC BACKGROUND

CRELD1, DNAI1, DNAH5, DNAH11, GDF1

Heterotaxy is associated with CHD in 50% to 95% of cases, and includes cardiac findings such as atrioventricular canal defects that are frequently unbalanced. It is estimated to occur in 1 in 10,000 live births and constitutes approximately 3% of CHD cases. Heterotaxy has the highest relative risk among all classes of CHD, which supports a strong genetic component. Clinically relevant CNV have been identified in 15% to 26% of patients with heterotaxy syndrome. Autosomal dominant, autosomal recessive, and X-linked inheritance patterns have all been described, but unlike other types of CHD, de novo variants are not major contributors to heterotaxy. The hallmark of CHD in heterotaxy is that there is no absolutely defined pattern to the possible combinations of cardiac and vascular defects.

 

References

Hagen et al. 2016, Human Genetics 135(12), 1355–1364 / Pierpont et al. 2018, Circulation 138:e653–e711

GENES

CRELD1, DNAI1, DNAH5, DNAH11, GDF1
How to order

LATEST ARTICLES

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

Here you can read the winning essays from the first, annual DNA essay competition on the subject of "How unfolding the DNA code can help with precisi...

Read more

Introduction Our voices are as unique as our fingerprints! Although there are people whose voices might sound alike, there are no two voices exact...

Read more

Not everyone likes winter. For people who do not enjoy the cold weather, or having to put on a thick coat to go outside, a winter can be a source of ...

Read more