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Meckel syndrome, type 1 and 6 (MKS)

Genes

  • Meckel syndrome, type 1 (MKS1)
  • Coiled-coil and c2 domain containing 2a (CC2D2A)

Summary

Meckel syndrome (MKS) is an autosomal recessive lethal malformation syndrome. The main features are central nervous system malformation, usually occipital meningoencephalocele and microcephaly, polycystic kidneys, cystic and fibrotic changes in the liver, and polydactyly. Additional anomalies are frequent. The syndrome is perinatally lethal. MKS is a genetically heterogeneous disease. It has been divided into 10 subgroups, MKS1-MKS10, according to gene locus involved. Mutations in three genes have been found in Finnish MKS patients: MKS1, CEP290 (MKS4) and CC2D2A (MKS6). Mutation databases for these three genes are maintained by and included in the FinDis database. Mutations in many MKS genes are also known to cause other partially overlapping syndromes, such as Joubert syndrome (JBTS), with similar clinical features. All of the identified genes are associated with ciliary functions.

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UMLS Concept names

Selected publications

  • Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestilä M. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet. 2006 Feb;38(2):155-7. (Pubmed)
  • Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attiá-Bitach T. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet. 2007 Jul;81(1):170-9. (Pubmed)
  • Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet. 2008 Jun;82(6):1361-7. doi: 10.1016/j.ajhg.2008.05.004. (Pubmed)