@entity32973 ( @entity32973 ) is a @entity2241 characterized by diffuse @entity8 , @entity5767 , a @entity75 that is usually occipital encephalocele, and/or vermian agenesis, with intrahepatic biliary duct proliferation. @entity14475 ( @entity14475 ) is a viable @entity16 with a characteristic "molar tooth sign" (MTS) on axial images reflecting @entity15405 / @entity1141 . Both conditions are classified as ciliopathies with an autosomal recessive mode of inheritance. Allelism of @entity32973 and @entity14475 has been reported for @entity45000 / @entity45000 , @entity8101 / @entity8101 , and @entity45001 / @entity45001 . Recently, one homozygous splice mutation with a founder effect was reported in the @entity20460 gene in Finnish fetuses with @entity32973 , defining the 6th locus for @entity32973 . Shortly thereafter, @entity20460 mutations were also reported in @entity14475 . The analysis of the @entity20460 gene in our series of @entity32973 fetuses, identified 14 novel truncating mutations in 11 cases. These results confirm the involvement of @entity20460 in @entity32973 and reveal a major contribution of @entity20460 to the disease. We also identified three missense @entity20460 mutations in two @entity14475 cases. Therefore, and in accordance with the data reported regarding @entity45001 , our results indicate phenotype-genotype correlations, as missense and presumably hypomorphic mutations lead to @entity14475 while all null alleles lead to @entity32973 .

XXXX mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

@entity8 :: ('MESH:D007674', 'Disease') :: ['renal cystic dysplasia'] @entity8101 :: ('80184', 'Gene') :: ['CEP290', 'MKS4'] @entity75 :: ('MESH:D001927', 'Disease') :: ['brain malformation'] @entity14475 :: ('MESH:C536293', 'Disease') :: ['Joubert syndrome', 'JBS'] @entity16 :: ('MESH:D009422', 'Disease') :: ['neurological disorder'] @entity5767 :: ('MESH:D017689', 'Disease') :: ['polydactyly'] @entity20460 :: ('57545', 'Gene') :: ['CC2D2A'] @entity1141 :: ('MESH:C535662', 'Disease') :: ['dysplasia'] @entity32973 :: ('MESH:C536133', 'Disease') :: ['MKS', 'Meckel-Gruber syndrome'] @entity45000 :: ('91147', 'Gene') :: ['MKS3', 'TMEM67'] @entity45001 :: ('23322', 'Gene') :: ['RPGRIP1L', 'MKS5'] @entity15405 :: ('MESH:C562568', 'Disease') :: ['cerebellar vermian hypoplasia'] @entity2241 :: ('MESH:D005315', 'Disease') :: ['lethal fetal disorder']
@entity20460 :: (57545,Gene) :: ['CC2D2A']
