SCIENTIFIC BACKGROUND

B9D1, B9D2, CC2D2A, CEP290, CEP41, CPLANE1, CSPP1, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B

Category:

Scientific Background

Meckel-Gruber syndrome (MKS) is an autosomal recessive inherited lethal disease. It is characterized by renal cysts, occipital encephalocele and other brain malformations, microphthalmia, polydactyly, situs inversus, biliary dysplasia, liver cysts/liver fibrosis and pulmonary hypoplasia. Newborns with MKS usually die within the first two weeks of life. The combination of malformations often leads to MKS being suspected as early as during prenatal ultrasound. The frequency of occurrence of MKS is estimated at approximately 1-8:100,000, although the frequency is significantly higher in populations with frequent consanguineous marriages.

 

Similar to nephronophthisis, MKS also shows gene locus heterogeneity. So far, pathogenic variants in about 20 genes have been identified, so a mutation analysis is very extensive. MKS is one of the so-called ciliopathies. Cilia are special cell appendages that fulfill different tasks. They serve as mechano-, chemo- and osmosensors. Furthermore, they play a decisive role in numerous signalling pathways and are important for adequate organ development, the maintenance of tissue homeostasis and in fundamental developmental processes.

 

References

Hartill et al. 2017, Front Pediatr 5:244 / Bergmann et al. 2016, Eur J Hum Genet, doi: 10.1038/ejhg.2016.33 / Sang et al. 2011, Cell 145:513 / Wolf et al. 2011, Pediatr Nephrol 26:181

GENES

B9D1, B9D2, CC2D2A, CEP290, CEP41, CPLANE1, CSPP1, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B

ASSOCIATED TESTS

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