B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2, TMEM138, TMEM216, TMEM67


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.



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

B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2, TMEM138, TMEM216, TMEM67
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