Alternative titles; symbols
HGNC Approved Gene Symbol: OFD1
SNOMEDCT: 403773005, 763833006;
Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38) : X:13,714,505-13,773,738 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| Xp22.2 | ?Retinitis pigmentosa 23 | 300424 | X-linked recessive | 3 |
| Joubert syndrome 10 | 300804 | X-linked recessive | 3 | |
| Orofaciodigital syndrome I | 311200 | X-linked dominant | 3 | |
| Simpson-Golabi-Behmel syndrome, type 2 | 300209 | X-linked recessive | 3 |
Human chromosomal region Xp22.3-p21.3 comprises the area between the pseudoautosomal boundary and the Duchenne muscular dystrophy gene (DMD; 300377). This region harbors several disease loci, including OFD1 (311200), DFN6 (300066), and SEDT (313400). It also contains a region of homology with both the short and the long arms of the Y chromosome and undergoes frequent chromosomal rearrangements.
De Conciliis et al. (1998) characterized the CXORF5 gene, originally named 71-7A, which was identified as an X chromosome-specific transcribed fragment (Kunkel et al., 1983) and localized to Xp22 (de Martinville et al., 1985, Alitalo et al., 1995). De Conciliis et al. (1998) isolated full-length human CXORF5 cDNAs representing 2 alternatively spliced transcripts, which they called CXORF5-1 (GenBank Y15164) and CXORF5-2 (GenBank Y16355). CXORF5-2 differs from CXORF5-1 by an insertion of 663 nucleotides resulting from the use of an alternative 3-prime splice site in intron 9. CXORF5-1 encodes a deduced 1,011-amino acid protein containing a large number of predicted coiled-coil alpha-helical domains. CXORF5-2 encodes a deduced protein of 367 amino acids; the first 353 residues of CXORF5-2 and CXORF5-1 are identical. Northern blot analysis detected an approximately 4-kb CXORF5 transcript in all tissues examined and an approximately 4.7-kb CXORF5 transcript in all tissues except skeletal muscle and heart. The authors determined that the CXORF5 gene escapes X inactivation.
De Conciliis et al. (1998) determined that the CXORF5 gene has 23 exons.
By fluorescence in situ hybridization, De Conciliis et al. (1998) confirmed the mapping of the CXORF5 gene to Xp22. They mapped a CXORF5 pseudogene to Yq11.22 and another CXORF5-related locus to 5p13.2-13.1.
De Conciliis et al. (1998) mapped the mouse Cxorf5 gene to the distal third of the X chromosome.
Using database mining and protein structural prediction programs, Emes and Ponting (2001) identified a sequence motif in the products of genes mutated in Miller-Dieker lissencephaly (LIS1; 601545), Treacher Collins (TCOF1, treacle; 606847), oral-facial-digital syndrome 1 (OFD1; 300170), and ocular albinism with late-onset sensorineural deafness (TBL1X; 300196) syndromes. Over 100 eukaryotic intracellular proteins were found to possess a LIS1 homology motif, including several katanin p60 (606696) subunits, muskelin (605623), Nopp140 (602394), the plant proteins tonneau and LEUNIG, slime mold protein aimless, and numerous WD repeat-containing beta-propeller proteins. The authors suggested that LIS1 homology motifs may contribute to the regulation of microtubule dynamics, either by mediating dimerization, or else by binding cytoplasmic dynein heavy chain (600112) or microtubules directly. The predicted secondary structure of LIS1 homology motifs, and their occurrence in homologs of G-beta beta-propeller subunits, suggests that they are analogs of G-gamma subunits, and might associate with the periphery of beta-propeller domains. The finding of LIS1 homology motifs in both treacle and Nopp140 reinforces previous observations of functional similarities between these nucleolar proteins.
Using yeast 2-hybrid analysis and coimmunoprecipitation assays in retinal cells, Coene et al. (2009) identified lebercilin (LCA5; 611408) as an interacting partner of CXORF5. The first 2 coiled-coil domains of lebercilin interacted with 5 of the 6 predicted coiled-coil regions of CXORF5. Both proteins were found to localize to the pericentriolar region in human and rat retinal cell lines. Mutations in CXORF5 were found to weaken the interaction with LCA5 to varying degrees.
Tang et al. (2013) demonstrated that autophagic degradation of a ciliopathy protein, OFD1, at centriolar satellites promotes primary cilium biogenesis. Autophagy is a catabolic pathway in which cytosol, damaged organelles, and protein aggregates are engulfed in autophagosomes and delivered to lysosomes for destruction. Tang et al. (2013) showed that the population of OFD1 at the centriolar satellites is rapidly degraded by autophagy upon serum starvation. In autophagy-deficient Atg5 (604261) or Atg3 (609606)-null mouse embryonic fibroblasts, OFD1 accumulated at centriolar satellites, leading to fewer and shorter primary cilia and a defective recruitment of BBS4 (600374) to cilia. These defects were fully rescued by OFD1 partial knockdown that reduced the population of OFD1 at centriolar satellites. More strikingly, OFD1 depletion at centriolar satellites promoted cilia formation in both cycling cells and transformed breast cancer MCF-7 cells that normally do not form cilia. Tang et al. (2013) concluded that their work revealed that removal of OFD1 by autophagy at centriolar satellites represents a general mechanism to promote ciliogenesis in mammalian cells and that these findings defined a role for autophagy in organelle biogenesis.
Using coimmunoprecipitation analysis, Thauvin-Robinet et al. (2014) found that endogenous OFD1 interacted with C2CD3 (615944) in human RPE cells. Epitope-tagged human OFD1 also interacted with fluorescence-tagged mouse C2cd3 in vitro. RPE cells overexpressing fluorescence-tagged mouse C2cd3 developed hyperelongated centrioles and centriole-like microtubular rods in various regions of the cytoplasm. Coexpression of mouse Ofd1 with C2cd3 reduced the frequency of hyperelongated centrioles in transfected U2OS cells. Mouse embryonic fibroblasts that were either hypomorphic or null for C2cd3 expression had shorter centrioles than wildtype and showed reduced Ofd1 content. Thauvin-Robinet et al. (2014) concluded that C2CD3 stabilizes OFD1 at the centriole and that OFD1 and C2CD3 are negative and positive regulators of centriole length, respectively.
Orofaciodigital Syndrome Type I, X-linked Dominant
Ferrante et al. (2001) analyzed several transcripts mapping to the critical region for oral-facial-digital syndrome type I (OFD1; 311200) on Xp22 and identified causative mutations in the CXORF5 gene. They analyzed 3 familial and 4 sporadic cases of OFD I. Analysis of the familial cases revealed a missense mutation (300170.0001), a 19-bp deletion (300170.0003), and a single basepair deletion leading to a frameshift (300170.0002). In the sporadic cases, they found a missense (de novo), a nonsense, a splice site, and a frameshift mutation. RNA in situ studies on mouse embryo tissue sections showed that Ofd1 is developmentally regulated and is expressed in all tissues affected in OFD I syndrome. Thus, the involvement of CXORF5 in this specific disorder demonstrates an important role of the gene in human development.
In 2 families and 2 sporadic patients with OFD I, Rakkolainen et al. (2002) identified 4 mutations in the CXORF5 gene (see, e.g., 300170.0004-300170.0005).
Simpson-Golabi-Behmel Syndrome Type 2
Budny et al. (2006) identified a mutation in the CXORF5 gene (300170.0007) in affected members of a family with a phenotype consistent with Simpson-Golabi-Behmel syndrome type 2 (SGBS2; 300209).
Joubert Syndrome 10
Coene et al. (2009) identified 2 different truncation mutations in exon 21 of the CXORF5 gene (300170.0008 and 300170.0009, respectively) in 2 unrelated families with X-linked recessive Joubert syndrome-10 (JBTS10; 300804).
In 2 boys with Joubert syndrome-10 who were distantly related through the maternal line, Field et al. (2012) identified an 18-bp in-frame deletion in exon 8 of the OFD1 gene (300170.0010). Field et al. (2012) noted that mutations proximal to exon 17 of the OFD1 gene are not necessarily associated with male lethality.
Retinitis Pigmentosa 23
In a 5-generation family with X-linked retinitis pigmentosa (RP23; 300424) mapping to Xp22.32-p22.13, Webb et al. (2012) performed targeted genomic next-generation sequencing for the entire RP23 disease interval and identified a deep intronic variant in the OFD1 gene (300170.0011) that segregated with disease in the family and was not found in 220 control chromosomes. RT-PCR analysis of patient RNA showed that 70% of expressed OFD1 represented a transcript containing a cryptic exon, designated 'X,' inserted between wildtype exons 9 and 10.
Thauvin-Robinet et al. (2006) reported 25 females with OFD I from 16 French and Belgian families. Eleven novel mutations in the CXORF5 gene were identified in 16 patients from 11 families. Renal cysts were associated with splice site mutations, mental retardation was associated with mutations in exons 3, 8, 9, 13, and 16, and tooth abnormalities were associated with mutations in coiled-coil domains. Seven (30%) of 23 patients showed nonrandom X inactivation.
By in vitro functional expression studies in retinal cells, Coene et al. (2009) showed that the JBTS10 mutations weakened the interaction with LCA5 (611408), but did not result in abnormal pericentriolar localization. In contrast, OFD I syndrome-related mutations are male-lethal and truncate the protein CXORF5 earlier, completely disrupted the interaction with LCA5, and resulted in abnormal cytoplasmic localization. Coene et al. (2009) noted that all mutations before residue 631 are lethal for males and cause OFD I syndrome in females. In contrast, males with JBTS mutations, which are located in the coiled-coil domain nearest to the C terminus, may live beyond the age of 30 years and carrier females are not affected. Overall, the severity of the phenotype appears to correlate with a reduction in protein length. The findings suggested that the inverse correlation between CXORF5 mutant protein length and phenotypic severity could be explained by differences in binding to functionally interacting proteins, as well as disruption of ciliary localization.
Using a Cre-LoxP system, Ferrante et al. (2006) generated knockout animals lacking Ofd1 and reproduced the main features of the clinical disorder, albeit with increased severity, possibly owing to differences of X inactivation patterns between human and mouse. They found failure of left-right axis specification in mutant male embryos, and ultrastructural analysis showed a lack of cilia in the embryonic node. Formation of cilia was defective in cystic kidneys from heterozygous females, implicating ciliogenesis as a mechanism underlying cyst development. In addition, they found impaired patterning of the neural tube and altered expression of the 5-prime Hoxa (142955) and Hoxd (142987) genes in the limb buds of mice lacking Ofd1, suggesting that Ofd1 may have a role beyond primary cilium organization and assembly.
Ferrante et al. (2009) studied Ofd1 function during zebrafish embryonic development. In wildtype embryos, Ofd1 mRNA was widely expressed and Ofd1-green fluorescent protein (GFP) fusion localized to the centrosome/basal body. Disrupting Ofd1 using antisense morpholinos led to bent body axes, hydrocephalus, and edema. Laterality was randomized in the brain, heart, and viscera, likely a consequence of shorter cilia with disrupted axonemes and perturbed intravesicular fluid flow in Kupffer vesicle. Embryos injected with Ofd1 antisense morpholinos also displayed convergent extension defects, which were enhanced by loss of Slb/Wnt11 (603699) or Tri/Vangl2 (600533), 2 proteins functioning in a noncanonic Wnt/planar cell polarity pathway. Pronephric glomerular midline fusion was compromised in Vangl2 and Ofd1 loss-of-function embryos. The authors concluded that Ofd1 is required for ciliary motility and function in zebrafish, supporting data showing that Ofd1 is essential for primary cilia function in mice. In addition, Ofd1 is important for convergent extension during gastrulation, consistent with data linking primary cilia and noncanonic Wnt/planar cell polarity signaling.
Zullo et al. (2010) generated a mouse line with kidney-specific inactivation of the Ofd1 gene, which resulted in a viable animal model for renal cystic disease and progressive impairment of renal function. Primary cilia initially formed and then disappeared after the development of cysts, suggesting that the absence of primary cilia may be a consequence rather than the primary cause of renal cystic disease. Immunofluorescence and Western blot analysis revealed upregulation of the mammalian target of rapamycin (mTOR; 601231) pathway in both dilated and nondilated renal structures. Treatment with rapamycin, a specific inhibitor of the mTOR pathway, resulted in a significant reduction in the number and size of renal cysts and a decrease in the cystic index compared with untreated mutant mice. The authors concluded that dysregulation of this pathway in the model is mTOR-dependent.
In a patient with oral-facial-digital syndrome I (OFD1; 311200), Ferrante et al. (2001) found a 1303A-C transversion in the OFD1 gene, resulting in a ser434-to-arg (S434R) substitution. The proposita had hamartomas, dental anomalies, cleft tongue, and highly arched palate. There was a suprasellar expansive lesion and mild mental retardation as well as alopecia and coarse hair. The affected mother and grandmother had the same mutation.
In a family reported by Odent et al. (1998), Ferrante et al. (2001) found that the proband with orofaciodigital syndrome I (OFD1; 311200) had deletion of a G at nucleotide 312 of the OFD1 gene, leading to a frameshift.
In a family reported by Scolari et al. (1997), Ferrante et al. (2001) found that members with orofaciodigital syndrome I (OFD1; 311200) had a 19-bp deletion in exon 3 of the OFD1 gene. The abnormality was found in an affected mother and daughter. Cleft palate/upper lip were present as well as clinodactyly and syndactyly and polycystic kidneys. Alopecia, dry hair, and liver and pancreatic cysts were also found.
In affected members of a Finnish family with orofaciodigital syndrome I (OFD1; 311200) spanning 3 generations, Rakkolainen et al. (2002) identified a T-to-G change in intron 5 of the CXORF5 gene, located 10 nucleotides upstream of the starting nucleotide of exon 6, creating a novel splice acceptor site. Two affected members had polycystic kidney disease. No signs of retardation were detected in this family.
In affected members of a Finnish family with orofaciodigital syndrome I (OFD1; 311200), Rakkolainen et al. (2002) identified a 2-bp insertion in exon 16 of the CXORF5 gene, 1887insAT, resulting in a premature stop codon at amino acid 666.
In a Japanese woman with sporadic orofaciodigital syndrome I (OFD1; 311200), Morisawa et al. (2004) identified a pair of deletions in the CXORF5 gene: a 4,094-bp deletion encompassing exon 7 to intron 9, and a 14-bp deletion in intron 9, both of which were present in her paternal X chromosome. The first deletion, the largest identified in the CXORF5 gene to that time, was revealed by identifying 4 novel transcripts that all lacked exons 7-9. The most likely cause of the double deletion was considered to be 2 unequal recombinations between homologous sequences. Identification of the 4,094-bp deletion was made possible only by analyzing CXORF5 mRNA, underscoring the utility of mRNA study in the mutation analysis of the CXORF5 gene.
In 2 affected males from a Polish family with a phenotype consistent with Simpson-Golabi-Behmel syndrome type 2 (SGBS2; 300209), Budny et al. (2006) identified a 4-bp duplication (2122dupAAGA) in exon 16 of the CXORF5 gene, predicted to introduce a premature stop codon in the CXORF5-1 transcript. Six unaffected obligate female carriers in the family also carried the mutation. The phenotype in this family was consistent with X-linked recessive inheritance and included mental retardation, macrocephaly, and respiratory problems due to ciliary dysfunction. All affected males besides the proband died at an early age.
In affected members of a family with X-linked recessive Joubert syndrome (JBTS10; 300804), Coene et al. (2009) identified a hemizygous 7-bp deletion (2841_2847delAAAAGAC) in exon 21 of the CXORF5 gene, resulting in a frameshift and premature termination. PCR analysis detected 30% residual protein expression. The mutation was not found in 250 control chromosomes. Affected individuals had delayed development, variably postaxial polydactyly and retinal degeneration, and the molar tooth sign on brain MRI.
In a male patient with X-linked Joubert syndrome (JBTS10; 300804), Coene et al. (2009) identified a hemizygous 1-bp deletion (2767delG) in exon 21 of the CXORF5 gene, resulting in a frameshift and premature termination. PCR analysis detected 58% residual protein expression. The mutation was not found in 250 control chromosomes. The patient had delayed development, postaxial polydactyly, and the molar tooth sign on brain MRI.
In 2 boys with Joubert syndrome-10 (JBTS10; 300804) who were distantly related through the maternal line, Field et al. (2012) identified an 18-bp in-frame deletion in exon 8 of the OFD1 gene, resulting in the deletion of residues 230-235 (IKMEAK). Both boys had delayed motor development and were nonverbal, but had better receptive language development. Both had macrocephaly and frontal bossing; one had downsloping palpebral fissures with epicanthal folds, and the other had deep-set eyes with infraorbital creases. One had severe cystic renal disease, whereas the other had increased echogenicity without renal impairment. Both had the molar tooth sign and an enlarged cisterna magna on brain MRI; only 1 had polymicrogyria, seizures, and EEG abnormalities. Neither had polydactyly or retinitis pigmentosa. Family history suggested that 2 deceased males may have been affected. Three unaffected females in the family, including both mothers, carried the mutation in the heterozygous state. Field et al. (2012) emphasized the relatively well-preserved nonverbal cognitive abilities of these boys, and noted that mutations proximal to exon 17 of the OFD1 gene are not necessarily associated with male lethality.
In 3 affected males from a 5-generation family with X-linked retinitis pigmentosa (RP23; 300424), originally studied by Hardcastle et al. (2000), Webb et al. (2012) identified a +706A-G transition in intron 9 of the OFD1 gene, causing usage of upstream splice acceptor (chrX:13,768,290-13,268,291) and donor (chrX:13,768,354-13,768,355) sequences. RT-PCR analysis of patient RNA demonstrated the presence of an additional transcript that was larger and expressed at higher levels than the wildtype product; direct sequencing revealed insertion of a 62-bp cryptic exon (exon 'X'), spliced between exons 9 and 10. Quantification of relative expression levels showed that approximately 30% of the proband's OFD1 transcript was wildtype, whereas 70% contained the cryptic exon, which causes a predicted frameshift resulting in premature termination of the OFD1 protein (Asn313fsTer330). The mutation segregated with disease in the family and was not found in 220 control chromosomes. Carrier females had normal funduscopic examinations and normal waveforms on electroretinography.
Alitalo, T., Francis, F., Kere, J., Lehrach, H., Schlessinger, D., Willard, H. F. A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes. Genomics 25: 691-700, 1995. [PubMed: 7759104] [Full Text: https://doi.org/10.1016/0888-7543(95)80012-b]
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. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum. Genet. 120: 171-178, 2006. [PubMed: 16783569] [Full Text: https://doi.org/10.1007/s00439-006-0210-5]
Coene, K. L. M., Roepman, R., Doherty, D., Afroze, B., Kroes, H. Y., Letteboer, S. J. F., Ngu, L. H., Budny, B., van Wijk, E., Gorden, N. T., Azhimi, M., Thauvin-Robinet, C., Veltman, J. A., Boink, M., Kleefstra, T., Cremers, F. P. M., van Bokhoven, H., de Brouwer, A. P. M. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am. J. Hum. Genet. 85: 465-481, 2009. [PubMed: 19800048] [Full Text: https://doi.org/10.1016/j.ajhg.2009.09.002]
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. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics 51: 243-250, 1998. [PubMed: 9722947] [Full Text: https://doi.org/10.1006/geno.1998.5348]
de Martinville, B., Kunkel, L. M., Bruns, G., Morle, F., Koenig, M., Mandel, J. L., Horwich, A., Latt, S. A., Gusella, J. F., Housman, D., Francke, U. Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am. J. Hum. Genet. 37: 235-249, 1985. [PubMed: 2984924]
Emes, R. D., Ponting, C. P. A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. Hum. Molec. Genet. 10: 2813-2820, 2001. [PubMed: 11734546] [Full Text: https://doi.org/10.1093/hmg/10.24.2813]
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., Le Marec, B., Malcolm, S., Winter, R., Ballabio, A., Franco, B. Identification of the gene for oral-facial-digital type I syndrome. Am. J. Hum. Genet. 68: 569-576, 2001. [PubMed: 11179005] [Full Text: https://doi.org/10.1086/318802]
Ferrante, M. I., Romio, L., Castro, S., Collins, J. E., Goulding, D. A., Stemple, D. L., Woolf, A. S., Wilson, S. W. Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene. Hum. Molec. Genet. 18: 289-303, 2009. [PubMed: 18971206] [Full Text: https://doi.org/10.1093/hmg/ddn356]
Ferrante, M. I., Zullo, A., Barra, A., Bimonte, S., Messaddeq, N., Studer, M., Dolle, P., Franco, B. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nature Genet. 38: 112-117, 2006. [PubMed: 16311594] [Full Text: https://doi.org/10.1038/ng1684]
Field, M., Scheffer, I. E., Gill, D., Wilson, M., Christie, L., Shaw, M., Gardner, A., Glubb, G., Hobson, L., Corbett, M., Friend, K., Willis-Owen, S., Gecz, J. Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. Europ. J. Hum. Genet. 20: 806-809, 2012. [PubMed: 22353940] [Full Text: https://doi.org/10.1038/ejhg.2012.9]
Hardcastle, A. J., Thiselton, D. L., Zito, I., Ebenezer, N., Mah, T. S., Gorin, M. B., Bhattacharya, S. S. Evidence for a new locus for X-linked retinitis pigmentosa (RP23). Invest. Ophthal. Vis. Sci. 41: 2080-2086, 2000. [PubMed: 10892847]
Kunkel, L. M., Tantravahi, U., Kurnit, D. M., Eisenhard, M., Bruns, G. P., Latt, S. A. Identification and isolation of transcribed human X chromosome DNA sequences. Nucleic Acids Res. 11: 7961-7979, 1983. [PubMed: 6689068] [Full Text: https://doi.org/10.1093/nar/11.22.7961]
Morisawa, T., Yagi, M., Surono, A., Yokoyama, N., Ohmori, M., Terashi, H., Matsuo, M. Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts. Hum. Genet. 115: 97-103, 2004. [PubMed: 15221448] [Full Text: https://doi.org/10.1007/s00439-004-1139-1]
Odent, S., Le Marec, B., Toutain, A., David, A., Vigneron, J., Treguier, C., Jouan, H., Milon, J., Fryns, J.-P., Verloes, A. Central nervous system malformations and early end-stage renal disease in oro-facial-digital syndrome type I: a review. Am. J. Med. Genet. 75: 389-394, 1998. [PubMed: 9482645]
Rakkolainen, A., Ala-Mello, S., Kristo, P., Orpana, A., Jarvela, I. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. J. Med. Genet. 39: 292-296, 2002. [PubMed: 11950863] [Full Text: https://doi.org/10.1136/jmg.39.4.292]
Scolari, F., Valzorio, B., Carli, O., Vizzardi, V., Costantino, E., Grazioli, L., Bondioni, M. P., Savoldi, S., Maiorca, R. Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease. Nephrol. Dial. Transplant. 12: 1247-1250, 1997. [PubMed: 9198060] [Full Text: https://doi.org/10.1093/ndt/12.6.1247]
Tang, Z., Lin, M. G., Stowe, T. R., Chen, S., Zhu, M., Stearns, T., Franco, B., Zhong, Q. Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. Nature 502: 254-257, 2013. [PubMed: 24089205] [Full Text: https://doi.org/10.1038/nature12606]
Thauvin-Robinet, C., Cossee, M., Cormier-Daire, V., Van Maldergem, L., Toutain, A., Alembik, Y., Bieth, E., Layet, V., Parent, P., David, A., Goldenberg, A., Mortier, G., and 9 others. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. (Letter) J. Med. Genet. 43: 54-61, 2006. [PubMed: 16397067] [Full Text: https://doi.org/10.1136/jmg.2004.027672]
Thauvin-Robinet, C., Lee, J. S., Lopez, E., Herranz-Perez, V., Shida, T., Franco, B., Jego, L., Ye, F., Pasquier, L., Loget, P., Gigot, N., Aral, B., and 17 others. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nature Genet. 46: 905-911, 2014. [PubMed: 24997988] [Full Text: https://doi.org/10.1038/ng.3031]
Webb, T. R., Parfitt, D. A., Gardner, J. C., Martinez, A., Bevilacqua, D., Davidson, A. E., Zito, I., Thiselton, D. L., Ressa, J. H. C., Apergi, M., Schwarz, N., Kanuga, N., Michaelides, M., Cheetham, M. E., Gorin, M. B., Hardcastle, A. J. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum. Molec. Genet. 21: 3647-3654, 2012. [PubMed: 22619378] [Full Text: https://doi.org/10.1093/hmg/dds194]
Zullo, A., Iaconis, D., Barra, A., Cantone, A., Messaddeq, N., Capasso, G., Dolle, P., Igarashi, P., Franco, B. Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. Hum. Molec. Genet. 19: 2792-2803, 2010. [PubMed: 20444807] [Full Text: https://doi.org/10.1093/hmg/ddq180]