E' una malattia trasmessa con carattere autosomico recessivo caratterizzata da Polidattilia per lo più postassiale, Reni Policistici, Encefalocele Occipitale, Oligoamnios/Anidramnios in fase avanzata di gravidanza, Displasia Duttale Epatica. 

Prognosi: è letale

LISTA DEI GENI INTERESSATI E TIPO DI MUTAZIONE

MECKEL MKS1 Arg158Ter

MECKEL MKS1 Arg166Trp

MECKEL MKS1 Glu277Ter

MECKEL MKS1 Gln350Ter

 Bibliografia

Tipo I

Ahdab-Barmada, M., Claassen, D. A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. J. Neuropath. Exp. Neurol. 49: 610-620, 1990.
Farag, T. I., Usha, R., Uma, R., Mady, S. A., Al-Nagdy, K., El-Badramany, M. H. Phenotypic variability in Meckel-Gruber syndrome. Clin. Genet. 38: 176-179, 1990.
Friedrich, U., Hansen, K. B., Hauge, M., Hagerstrand, I., Kristoffersen, K., Ludvigsen, E., Merrild, U., Norgaard-Pedersen, B., Petersen, G. B., Therkelsen, A. J. Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome). Clin. Genet. 15: 278-286, 1979.
Fryns, J. P., Vandenberghe, K., van Assche, F. A., Cassiman, J. J., van den Berghe, H. Prenatal diagnosis of Meckel syndrome. J. Genet. Hum. 28: 89-94, 1980.
Mecke, S., Passarge, E. Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. Ann. Genet. 14: 97-103, 1971.
Nelson, J., Nevin, N. C., Hanna, E. J. Polydactyly in a carrier of the gene for the Meckel syndrome. Am. J. Med. Genet. 53: 207-209, 1994.
Nevin, N. C., Thompson, W., Davidson, G., Horner, W. T. Prenatal diagnosis of the Meckel syndrome. Clin. Genet. 15: 1-4, 1979.
Opitz, J. M., Howe, J. J. The Meckel syndrome (dysencephalia splanchnocystica, the Gruber syndrome). Birth Defects Orig. Art. Ser. 5: 167-179, 1969.
 Pachi, A., Giancotti, A., Torcia, F., de Prosperi, V., Maggi, E. Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case. Prenatal Diag. 9: 187-190, 1989.

Tipo II

Ahdab-Barmada, M., Claasen, D. A distinctive triad malformations of the central nervous system in the Meckel-Gruber syndrome. J. Neuropath. Exp. Neurol. 49: 610-620, 1990.
Roume, J., Ma, H. W., Le Merrer, M., Cormier-Daire, V., Girlich, D., Genin, E., Munnich, A. Genetic heterogeneity in Meckel syndrome. J. Med. Genet. 34: 1003-1006, 1997.
Valente, E. M., Logan, C. V., Mougou-Zerelli, S., Lee, J. H., Silhavy, J. L., Brancati, F., Iannicelli, M., Travaglini, L., Romani, S., Illi, B., Adams, M., Szymanska, K., and 39 others. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. (Letter) Nature Genet. 42: 619-625, 2010.

Tipo III

Consugar, M. B., Kubly, V. J., Lager, D. J., Hommerding, C. J., Wong, W. C., Bakker, E., Gattone, V. H., II, Torres, V. E., Breuning, M. H., Harris, P. C. Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum. Genet. 121: 591-599, 2007.
Morgan, N. V., Gissen, P., Sharif, S. M., Baumber, L., Sutherland, J., Kelly, D. A., Aminu, K., Bennett, C. P., Woods, C. G., Mueller, R. F., Trembath, R. C., Maher, E. R., Johnson, C. A. A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. Hum. Genet. 111: 456-461, 2002.
 Smith, U. R., Consugar, M., Tee, L. J., McKee, B. M., Maina, E. N., Whelan, S., Morgan, N. V., Goranson, E., Gissen, P., Lilliquist, S., Aligianis, I. A., Ward, C. J., and 19 others. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and wpk rat. Nature Genet. 38: 191-196, 2006.