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Center for Nephrology and Metabolic Disorders
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Oral-facial-digital syndrome 1 protein

The OFD1 gene encodes a centrosomal protein which when mutated causes various ciliopathies such as orofaciodigital syndrome 1, Joubert syndrome 10, and Simpson-Golabi-Behmel syndrome 2.


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:

Retinitis pigmentosa 23
Joubert syndrome 10
Orofaciodigital syndrome 01
Simpson-Golabi-Behmel syndrome 2



Field M et al. (2012) Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

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Thauvin-Robinet C et al. (2014) The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

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Tang Z et al. (2013) Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.

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Ferrante MI et al. (2006) Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

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Emes RD et al. (2001) A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration.

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de Conciliis L et al. (1998) Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.

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Odent S et al. (1998) Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.

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Scolari F et al. (1997) Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease.

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Alitalo T et al. (1995) A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes.

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Kunkel LM et al. (1983) Identification and isolation of transcribed human X chromosome DNA sequences.

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de Martinville B et al. (1985) Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

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Budny B et al. (2006) A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

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Webb TR et al. (2012) Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

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Hardcastle AJ et al. (2000) Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

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Zullo A et al. (2010) Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.

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Ferrante MI et al. (2009) Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.

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Thauvin-Robinet C et al. (2006) Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

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Morisawa T et al. (2004) Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

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Rakkolainen A et al. (2002) Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.

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Ferrante MI et al. (2001) Identification of the gene for oral-facial-digital type I syndrome.

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Coene KL et al. (2009) OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

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Orphanet article

Orphanet ID 123982 external link

NCBI article

NCBI 8481 external link

OMIM.ORG article

Omim 300170 external link

Wikipedia article

Wikipedia EN (OFD1) external link
Update: Aug. 14, 2020
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