Meckel Gruber syndrome (MGS)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Meckel Gruber syndrome (MGS). The transmission is autosomal recessive. Fully referenced neurology checklist.
Genetic transmission
- The transmission is autosomal recessive
Genetic mutations
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Clinical features
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References
- Baala L, Romano S, Khaddour R, et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 2007; 80:186-194.
- Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestilä M. Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Hum Mutat 2009; 30:E813-E830.
- Frank V, den Hollander AI, Brüchle NO, et al. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat 2008; 29:45-52.
- Baala L, Audollent S, Martinovic J, et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 2007; 81:170-179.
- 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; 82:1361-1367.
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