Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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MKS1 Gene

The MKS1 gene encodes a protein that is localized to the basal body (kinetosome) and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in autosomal recessive disorders such as Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13.


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

Related Diseases:

Bardet-Biedl syndrome 13
Joubert syndrome 28



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

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

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None (1984) The Meckel syndrome: clinicopathological findings in 67 patients.

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Kyttälä M et al. (2006) MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

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Auber B et al. (2007) A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

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Weatherbee SD et al. (2009) A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.

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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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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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Bialas NJ et al. (2009) Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.

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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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Orphanet article

Orphanet ID 123253 external link

NCBI article

NCBI 54903 external link

OMIM.ORG article

Omim 609883 external link

Wikipedia article

Wikipedia EN (MKS1) external link
Update: Aug. 14, 2020
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