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Meckel Syndrome 

Meckel Syndrome
Chapter:
Meckel Syndrome
Author(s):

Amanda Leightner

and Peter C. Harris

DOI:
10.1093/med/9780199934522.003.0023
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date: 07 March 2021

Meckel syndrome (MKS), also known as Meckel-Gruber syndrome, is a lethal, recessively inherited disorder with a high degree of genetic and phenotypic heterogeneity. It is relatively rare in outbred populations, but in ethnic groups with a high level of consanguinity and in populations where bottlenecks have enriched for recessive disorders the frequency can be greater than 1:10000. The phenotype is quite variable but polycystic cystic kidneys (PKD) are always present. Other common abnormalities include ductal plate malformation of the liver, central nervous system (CNS) defects, usually occipital encephalocele, and polydactyly. Ten different genes have now been associated with the classical MKS phenotype, with the role of these gene products related to the appropriate functioning of primary cilia. Consequently, MKS is a ciliopathy: a disorder associated with defective primary cilia and/or centrosomes. Cilia are evolutionarily conserved organelles, which protrude from the surface of most vertebrate cells from a modified centriole called the basal body, and may be motile or non-motile. Ciliopathies with renal and extra-renal phenotypes related to MKS include nephronophthisis (NPHP), Joubert syndrome (JBTS) and Bardet Biedl syndrome (BBS), with MKS being the most severe. Recent data has highlighted considerable genic overlap, especially between MKS, JBTS and NPHP, with an emerging picture that the encoded proteins share common localizations at the cilium and centrosome and form complexes involved in regulating protein trafficking to the cilium.

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