Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Orofaciodigitales Syndrom 1-Protein

Das OFD1-Gen kodiert ein zentrosomales Protein. Mutationen sind bei verschiedenen x-chromosomalen Ziliopathien gefunden, so bei Orofaciodigitales Syndrom 1, Bei Joubert-Syndrom 10 und bei Simpson-Golabi-Behmel-Syndrom 2.


Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Retinitis pigmentosa 23
Joubert-Syndrom 10
Orofaciodigitales Syndrom 01
Simpson-Golabi-Behmel-Syndrom 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
Update: 14. August 2020
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