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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.