Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transmembrane protein 67

The TMEM67 gene encodes a ciliary protein that is responsible for the localizytion of the primary cilium to the apical membrane. Mutations cause various recessive ciliopathies such as Joubert syndrome 6, Meckel syndrome 3, and Nephronophthisis 11. In Bardet-Biedl syndrome 1, mutation in this gene can further modify the phenotype.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 11
TMEM67
Joubert syndrome 06
TMEM67
Meckel syndrome 03
TMEM67
Bardet-Biedl syndrome 01
ARL6
BBS1
CCDC28B
TMEM67
COACH syndrome
CC2D2A
RPGRIP1L
TMEM67

References:

1.

Leitch CC et al. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

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2.

Romano S et al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

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3.

Garcia-Gonzalo FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

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4.

Consugar MB et al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

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5.

Williams CL et al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.

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6.

Dawe HR et al. (2007) The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

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7.

Tammachote R et al. (2009) Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.

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8.

Dafinger C et al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

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9.

Verloes A et al. (1989) Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.

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10.

Gentile M et al. (1996) COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.

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11.

Doherty D et al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

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12.

Baala L et al. (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

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13.

Otto EA et al. (2009) Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

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14.

Adams M et al. (2012) A meckelin-filamin A interaction mediates ciliogenesis.

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15.

Smith UM et al. (2006) The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

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16.

Abdelhamed ZA et al. (2013) Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

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17.

NCBI article

NCBI 91147 [^]
18.

OMIM.ORG article

Omim 609884 [^]
19.

Orphanet article

Orphanet ID 120140 [^]
20.

Wikipedia article

Wikipedia EN (TMEM67) [^]
Update: April 29, 2019