Clinical Utility Gene Card

Clinical utility gene card for: Meckel syndrome

  • European Journal of Human Genetics (2011) 19 (2011)
  • doi:10.1038/ejhg.2010.255
  • Download Citation
Published online:
  • Subscribe to European Journal of Human Genetics for full access:

    $1003

    Subscribe

Additional access options:

Already a subscriber?  Log in  now or  Register  for online access.

References

  1. 1.

    : The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 1984; 18: 671–689.

  2. 2.

    , , , , , et al.: Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet 1997; 101: 88–92.

  3. 3.

    , , et al: MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet 2006; 38: 155–157.

  4. 4.

    , , et al: Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet 2007; 121: 591–599.

  5. 5.

    , , et al: The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet 2007; 16: 173–186.

  6. 6.

    , , et al: Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet 2010; 42: 619–625.

  7. 7.

    , , et al: The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet 2006; 38: 191–196.

  8. 8.

    , , et al: Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 2007; 81: 170–179.

  9. 9.

    , , et al: Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat 2008; 29: 45–52.

  10. 10.

    , , et al: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 2007; 39: 875–881.

  11. 11.

    , , , , : Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet 2008; 82: 1361–1367.

  12. 12.

    , , et al: Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. Hum Mutat 2007; 28: 638–639.

  13. 13.

    , , et al: Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Hum Mutat 2007; 28: 523–524.

  14. 14.

    , , et al: Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat 2010; 31: E1319–E1331.

  15. 15.

    , , et al: CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat 2009; 30: 1574–1582.

  16. 16.

    , , , , : Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Hum Mutat 2009; 30: E813–E830.

  17. 17.

    , , et al: Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet 2008; 82: 959–970.

Download references

Acknowledgements

This work was supported by EuroGentest, an EU-FP6 supported NoE, contract number 512148 (EuroGentest Unit 3: ‘Clinical genetics, community genetics and public health’, Workpackage 3.2).

Author information

Affiliations

  1. Department of Medical Genetics, Väestöliitto, Helsinki, Finland

    • R Salonen
  2. National Institute for Health and Welfare, Department of Chronic Disease Prevention, Helsinki, Finland

    • M Kestilä
  3. Center for Human Genetics, Bioscientia, Ingelheim, Germany

    • C Bergmann

Authors

  1. Search for R Salonen in:

  2. Search for M Kestilä in:

  3. Search for C Bergmann in:

Competing interests

The authors declare no conflict of interest.

Corresponding authors

Correspondence to R Salonen or C Bergmann.