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Table 1 Genes mutated in Meckel-Gruber syndrome and related ciliopathies

From: Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

Locus Chromosome location Gene name Protein name Other ciliopathies Key reference Common mutation in population Reference
MKS1 17q22 MKS1 MKS1 BBS13 [1] Finnish - c. 1408-35_1408-7del29 [1]
MKS2 11q13.1 TMEM216 TMEM216 JBTS2 [2] Ashkenazi - p.R73L [2]
  11q12.2 TMEM138 TMEM138 JBTS16 [3]  
MKS3 8q22.1 TMEM67 MECKELIN JBTS6, NPHP11 [4] Pakistani - c. 1575 + 1 G > A [4]
MKS4 12q21.32 CEP290 CEP290 BBS14, JBTS5, LCA10, NPHP6, SLSN6 [5]  
MKS5 16q12.2 RPGRIP1L RPGRIP1L JBTS7, NPHP8 [6] Mixed European -p.T615P [11]
MKS6 4p15.33 CC2D2A CC2D2A JBTS9 [7] Finnish - c. 1762 C > T [7]
MKS7 3q22.1 NPHP3 NPHP3 NPHP3 [8]  
MKS8 12q24.31 TCTN2 TCTN2   [9]  
MKS9 17p11.2 B9D1 B9D1   [10]  
  1. The nine genes reported to be mutated are listed, with key references indicated. Common founder mutations that have been identified previously are also indicated, with the ethnicity of the population studied and any relevant reference.