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Gene Review

OFD1  -  oral-facial-digital syndrome 1

Homo sapiens

Synonyms: 71-7A, CXorf5, JBTS10, Oral-facial-digital syndrome 1 protein, Protein 71-7A, ...
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Disease relevance of OFD1


Psychiatry related information on OFD1

  • The involvement of OFD1 in oral-facial-digital type I syndrome demonstrates an important role of this gene in human development [6].
  • We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene [7].

High impact information on OFD1

  • The oral-facial-digital type I (OFD1) syndrome (OMIM 311200) is a human developmental disorder; affected individuals have craniofacial and digital abnormalities and, in 15% of cases, polycystic kidney [8].
  • Using a Cre-loxP system, we generated knockout animals lacking Ofd1 and reproduced the main features of the disease, albeit with increased severity, possibly owing to differences of X inactivation patterns between human and mouse [8].
  • These including focal dermal hypoplasia, oral-facial-digital syndrome type I (ref. 3) and epilepsy with bilateral periventricular heterotopias [9].
  • There was a maximum lod score of 3.32 in an 'affecteds only' analysis using a marker within the KAL gene (theta = 0.0 ), thereby confirming the location of the gene for OFD1 on the X chromosome [1].
  • Therefore, the OFD1 gene product appears to have widespread importance in organogenesis and is essential for fetal survival [1].

Biological context of OFD1

  • Furthermore, this mapping study suggests a possible mouse model for OFD1 as the X-linked dominant Xpl mutant, in which polydactyly and renal cystic disease occurs, maps to the homologous region of the mouse X chromosome [1].
  • In two OFD1 kindreds affected by PKD, a frameshift mutation and a splice-site mutation were detected [10].
  • This study used a combination of microscopic, biochemical, and overexpression approaches to demonstrate that OFD1 protein is a core component of the human centrosome throughout the cell cycle [5].
  • The first deletion, the largest known to affect OFD1, was revealed by identifying four novel transcripts that all lacked exons 7-9 [11].
  • CONCLUSIONS: This kindred illustrates the inheritance pattern of OFD1 and its accompanying PKD [3].

Anatomical context of OFD1

  • These striking patterns of OFD1 localization within cells place the protein at key sites, where it may play roles not only in microtubule organization (centrosomal function) but also in mechanosensation of urine flow (a primary ciliary function) [5].
  • Moreover, using normal human renal mesenchymal cell lines, the immunoreactive protein colocalized with gamma-tubulin, suggesting that OFD1 is associated with the centrosome [10].
  • Oral-facial-digital type 1 (OFD1) syndrome is an X-linked dominant condition characterized by malformations of the face, oral cavity, and digits [12].
  • We report on 2 families in which OFD syndrome type 1 was observed with central nervous system (CNS) malformations and 3 sporadic cases of OFD with CNS defects, most likely representing fresh mutations for OFD 1 [13].
  • Only recently have intraocular findings been described in oral-facial-digital syndrome (OFDS), including 5 cases of chorioretinal colobomas and 1 case of optic nerve coloboma [14].

Associations of OFD1 with chemical compounds

  • By immunoprobing human metanephroi and kidney epithelial lines, it was found that, during acquisition of epithelial polarity, OFD1 became localized to the apical zone of nephron precursor cells and then to basal bodies at the origin of primary cilia in fully differentiated epithelia [5].

Other interactions of OFD1

  • Twenty-four new localizations have been established, including five in previously reported conditions (FG, Carpenter, Arts, OPA2, and OFD1) [15].
  • Mutations in OFD1 modified its localization to the Golgi apparatus and in some cases also to the nucleus [16].
  • By virtue of its mapping assignment to the Xp22 region, Cxorf5 represents a candidate gene for at least four human diseases, namely spondyloepiphiseal dysplasia late, oral-facial-digital syndrome type 1, craniofrontonasal syndrome, and a nonsyndromic sensorineural deafness [17].
  • The combination of malformations observed overlaps with that of the oral-facial-digital syndrome, hydrolethalus syndrome, and Pallister-Hall syndrome [18].
  • This case illustrates ongoing problems in differentiating hydrolethalus, both pre- and postnatally, from other midline malformation syndromes including Pallister-Hall, Smith-Lemli-Opitz, pseudo-trisomy 13, oral facial-digital syndrome, and Meckel syndrome [19].

Analytical, diagnostic and therapeutic context of OFD1


  1. The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Feather, S.A., Woolf, A.S., Donnai, D., Malcolm, S., Winter, R.M. Hum. Mol. Genet. (1997) [Pubmed]
  2. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Prakash, S.K., Van den Veyver, I.B., Franco, B., Volta, M., Ballabio, A., Zoghbi, H.Y. Genomics (1999) [Pubmed]
  3. Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred. Feather, S.A., Winyard, P.J., Dodd, S., Woolf, A.S. Nephrol. Dial. Transplant. (1997) [Pubmed]
  4. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. Thauvin-Robinet, C., Cossée, M., Cormier-Daire, V., Van Maldergem, L., Toutain, A., Alembik, Y., Bieth, E., Layet, V., Parent, P., David, A., Goldenberg, A., Mortier, G., Héron, D., Sagot, P., Bouvier, A.M., Huet, F., Cusin, V., Donzel, A., Devys, D., Teyssier, J.R., Faivre, L. J. Med. Genet. (2006) [Pubmed]
  5. OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. Romio, L., Fry, A.M., Winyard, P.J., Malcolm, S., Woolf, A.S., Feather, S.A. J. Am. Soc. Nephrol. (2004) [Pubmed]
  6. Identification of the gene for oral-facial-digital type I syndrome. Ferrante, M.I., Giorgio, G., Feather, S.A., Bulfone, A., Wright, V., Ghiani, M., Selicorni, A., Gammaro, L., Scolari, F., Woolf, A.S., Sylvie, O., Bernard, L., Malcolm, S., Winter, R., Ballabio, A., Franco, B. Am. J. Hum. Genet. (2001) [Pubmed]
  7. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Budny, B., Chen, W., Omran, H., Fliegauf, M., Tzschach, A., Wisniewska, M., Jensen, L.R., Raynaud, M., Shoichet, S.A., Badura, M., Lenzner, S., Latos-Bielenska, A., Ropers, H.H. Hum. Genet. (2006) [Pubmed]
  8. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Ferrante, M.I., Zullo, A., Barra, A., Bimonte, S., Messaddeq, N., Studer, M., Dollé, P., Franco, B. Nat. Genet. (2006) [Pubmed]
  9. Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Ryan, S.G., Chance, P.F., Zou, C.H., Spinner, N.B., Golden, J.A., Smietana, S. Nat. Genet. (1997) [Pubmed]
  10. OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. Romio, L., Wright, V., Price, K., Winyard, P.J., Donnai, D., Porteous, M.E., Franco, B., Giorgio, G., Malcolm, S., Woolf, A.S., Feather, S.A. J. Am. Soc. Nephrol. (2003) [Pubmed]
  11. Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts. Morisawa, T., Yagi, M., Surono, A., Yokoyama, N., Ohmori, M., Terashi, H., Matsuo, M. Hum. Genet. (2004) [Pubmed]
  12. Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant. Ferrante, M.I., Barra, A., Truong, J.P., Banfi, S., Disteche, C.M., Franco, B. Genomics (2003) [Pubmed]
  13. Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Odent, S., Le Marec, B., Toutain, A., David, A., Vigneron, J., Tréguier, C., Jouan, H., Milon, J., Fryns, J.P., Verloes, A. Am. J. Med. Genet. (1998) [Pubmed]
  14. Retinal hamartoma in oral-facial-digital syndrome. Tsai, P.S., O'Brien, J.M. Arch. Ophthalmol. (1999) [Pubmed]
  15. XLMR genes: update 1998. Lubs, H., Chiurazzi, P., Arena, J., Schwartz, C., Tranebjaerg, L., Neri, G. Am. J. Med. Genet. (1999) [Pubmed]
  16. Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization. Gerlitz, G., Darhin, E., Giorgio, G., Franco, B., Reiner, O. Cell Cycle (2005) [Pubmed]
  17. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. de Conciliis, L., Marchitiello, A., Wapenaar, M.C., Borsani, G., Giglio, S., Mariani, M., Consalez, G.G., Zuffardi, O., Franco, B., Ballabio, A., Banfi, S. Genomics (1998) [Pubmed]
  18. Twin fetuses with abnormalities that overlap with three midline malformation complexes. Hingorani, S.R., Pagon, R.A., Shepard, T.H., Kapur, R.P. Am. J. Med. Genet. (1991) [Pubmed]
  19. Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis. Norgard, M., Yankowitz, J., Rhead, W., Kanis, A.B., Hall, B.D. Prenat. Diagn. (1996) [Pubmed]
  20. Cystic kidneys in a patient with oral-facial-digital syndrome type I. Stapleton, F.B., Bernstein, J., Koh, G., Roy, S., Wilroy, R.S. Am. J. Kidney Dis. (1982) [Pubmed]
  21. Prenatal diagnosis of oral-facial-digital syndrome, type I. Shipp, T.D., Chu, G.C., Benacerraf, B. Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. (2000) [Pubmed]
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