Meckel Gruber syndrome (MGS)

Evidence-based neurology checklist on meckel gruber syndrome (mgs): Genetic transmission The transmission is autosomal recessive Genetic mutations Clinical features

Genetic transmission

  • The transmission is autosomal recessive

Genetic mutations

Clinical features

References

  1. 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.
  2. 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. 
  3. 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.
  4. 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. 
  5. 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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