SCIENTIFIC BACKGROUND

EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10

Category:

Scientific Background

Waardenburg syndrome (WS) is a rare autosomal dominant inherited, clinically and genetically heterogeneous disease. The four clinically defined subtypes have pigmentation disorders of the skin and hair, often with a white forelock, heterochromia iridis, and sensorineural hearing loss, in common. The frequency is reported to be 1:40,000 in the general population. Waardenburg syndrome is thought to be present in 3% of all patients with sensorineural hearing loss.

 

WS1 and WS2 are the most common forms. They are distinguished by telecanthus and synophris, which do not occur in WS2. WS3 is also known as Waardenburg-Klein syndrome and has upper extremity malformations as an additional main symptom. WS4 or Waardenburg-Shah syndrome shows pigmentation abnormalities and hearing loss in addition to Hirschsprung disease.

 

The symptoms are caused by differentiation disorders of embryonic cells of the neural crest. The genes known to be causative genes are also involved in the development of the neural crest, the inner ear and the migration of melanocytes.

 

References

Bocángel et al. 2018, Eur J Med Genet 61:348 / Song et al. 2016 Clin Genet 89:416 / Sun et al 2016, Sci Rep 6:35498 / Yang et al. 2013, PLoS One 8: e77149 / Pingault et al. 2010, Hum Mut 31:1 / Pardono et al. 2003, Am J Med Genet 117A:22 / Read & Newton 1997, J Med Genet 34:656

GENES

EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10

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