Gene Review:
OFD1 - oral-facial-digital syndrome 1
Homo sapiens
Synonyms:
71-7A, CXorf5, JBTS10, Oral-facial-digital syndrome 1 protein, Protein 71-7A, ...
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Retinal hamartoma in oral-facial-digital syndrome. Tsai, P.S., O'Brien, J.M. Arch. Ophthalmol. (1999)
- XLMR genes: update 1998. Lubs, H., Chiurazzi, P., Arena, J., Schwartz, C., Tranebjaerg, L., Neri, G. Am. J. Med. Genet. (1999)
- 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)
- 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)
- 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)
- Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis. Norgard, M., Yankowitz, J., Rhead, W., Kanis, A.B., Hall, B.D. Prenat. Diagn. (1996)
- 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)
- 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)