Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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B9 domain-containing protein 1

The B9D1 gene encodes a membrane protein essential for cilia assambly. Mutations cause autosomal recessive Joubert syndrome 27 and Meckel syndrome 9.


Clinic 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:

Meckel syndrome 09
Joubert syndrome 27



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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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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Dowdle WE et al. (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome.

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Romani M et al. (2014) Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

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Hopp K et al. (2011) B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

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Orphanet article

Orphanet ID 270354 external link

NCBI article

NCBI 27077 external link

OMIM.ORG article

Omim 614144 external link
Update: Aug. 14, 2020
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