Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Scientific Background

The Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder. It is characterized by renal cysts, occipital encephalocele and other brain malformations, microphthalmia, polydactyly, situs inversus, bile duct dysplasia, liver cysts/liver fibrosis and pulmonary hypoplasia. The majority of all newborns with MKS die within the first two weeks of life. Frequently the combination of malformations, are already seen during prenatal ultrasound examinations and gives rise to the suspicion of MKS. The frequency of MKS is approx. 1-8:100,000; however, it is significantly higher in populations where intermarriages are common.

Similar to nephronophthisis, also MKS exhibits locus heterogeneity. So far, mutations have been identified in nine genes; a mutational analysis can therefore be extensive. MKS belongs to the group of ciliopathies. Cilia are specific cell protuberances with various tasks. They serve, for example, as mechano, chemo and osmotic sensors. Moreover, they play a vital part in numerous signaling pathways and are crucial for appropriate development of the organs, maintenance of tissue homeostasis and for general developmental processes.