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Review ArticleReview Article
Open Access

The pathogenesis of the clinical features of oral-facial-digital syndrome type I

Wael M. AlKattan, Mohammad M. Al-Qattan and Sameer A. Bafaqeeh
Saudi Medical Journal November 2015, 36 (11) 1277-1284; DOI: https://doi.org/10.15537/smj.2015.11.12446
Wael M. AlKattan
From the Department of Surgery (AlKattan), Alfaisal University, and the Departments of Surgery (Al-Qattan), Otolaryngology (Bafaqeeh), King Saud University, Riyadh, Kingdom of Saudi Arabia
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Mohammad M. Al-Qattan
From the Department of Surgery (AlKattan), Alfaisal University, and the Departments of Surgery (Al-Qattan), Otolaryngology (Bafaqeeh), King Saud University, Riyadh, Kingdom of Saudi Arabia
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  • For correspondence: [email protected]
Sameer A. Bafaqeeh
From the Department of Surgery (AlKattan), Alfaisal University, and the Departments of Surgery (Al-Qattan), Otolaryngology (Bafaqeeh), King Saud University, Riyadh, Kingdom of Saudi Arabia
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References

  1. ↵
    1. Tagliani MM,
    2. Gomide MR,
    3. Carrara CF
    (2010) Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination. Cleft Palate Craniofac J 47:162–166.
    OpenUrlPubMed
  2. ↵
    1. Romero M,
    2. Franco B,
    3. del Pozo JS,
    4. Romance A
    (2007) Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. Cleft Palate Craniofac J 44:660–666.
    OpenUrlPubMed
  3. ↵
    1. Thauvin-Robinet C,
    2. Cossée M,
    3. Cormier-Daire V,
    4. Van Maldergem L,
    5. Toutain A,
    6. Alembik Y,
    7. 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. J Med Genet 43:54–61.
    OpenUrlAbstract/FREE Full Text
    1. Annerén G,
    2. Arvidson B,
    3. Gustavson KH,
    4. Jorulf H,
    5. Carlsson G
    (1984) Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. Clin Genet 26:178–186.
    OpenUrlCrossRefPubMedWeb of Science
    1. Donnai D,
    2. Kerzin-Storrar L,
    3. Harris R
    (1987) Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. J Med Genet 24:84–87.
    OpenUrlAbstract/FREE Full Text
    1. Odent S,
    2. Le Marec B,
    3. Toutain A,
    4. David A,
    5. Vigneron J,
    6. Tréguier C,
    7. et al.
    (1998) Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet 75:389–394.
    OpenUrlCrossRefPubMedWeb of Science
    1. Salinas CF,
    2. Pai GS,
    3. Vera CL,
    4. Milutinovic J,
    5. Hagerty R,
    6. Cooper JD,
    7. et al.
    (1991) Variability of expression of the orofaciodigital syndrome type I in black females: six cases. Am J Med Genet 38:574–582.
    OpenUrlCrossRefPubMedWeb of Science
    1. King NM,
    2. Sanares AM
    (2002) Oral-facial-digital syndrome, Type I: a case report. J Clin Pediatr Dent 26:211–215.
    OpenUrlPubMed
    1. Al-Qattan MM,
    2. Hassanain JM
    (1997) Classification of limb anomalies in oral-facial-digital syndromes. J Hand Surg Br 22:250–252.
    OpenUrlPubMed
  4. ↵
    1. Al-Qattan MM
    (1998) Cone-shaped epiphyses in the toes and trifurcation of the soft palate in oral-facial-digital syndrome type-I. Br J Plast Surg 51:476–479.
    OpenUrlPubMed
  5. ↵
    1. Driva T,
    2. Franklin D,
    3. Crawford PJ
    (2004) Variations in expression of oral-facial-digital syndrome (type I): report of two cases. Int J Pediatr Dent 14:61–68.
    OpenUrl
  6. ↵
    1. Ferrante MI,
    2. Giorgio G,
    3. Feather SA,
    4. Bulfone A,
    5. Wright V,
    6. Ghiani M,
    7. et al.
    (2001) Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 68:569–576.
    OpenUrlCrossRefPubMedWeb of Science
  7. ↵
    1. Singla V,
    2. Romaguera-Ros M,
    3. Garcia-Verdugo JM,
    4. Reiter JF
    (2010) Ofd1, a human disease gene, regulates the length and distal structure of centrioles. Dev Cell 18:410–424.
    OpenUrlCrossRefPubMedWeb of Science
  8. ↵
    1. Giorgio G,
    2. Alfieri M,
    3. Prattichizzo C,
    4. Zullo A,
    5. Cairo S,
    6. Franco B
    (2007) Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. Mol Biol Cell 18:4397–4404.
    OpenUrlAbstract/FREE Full Text
  9. ↵
    1. Goetz SC,
    2. Anderson KV
    (2010) The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet 11:331–344.
    OpenUrlCrossRefPubMedWeb of Science
  10. ↵
    1. Cardenas-Rodriguez M,
    2. Badano JL
    (2009) Ciliary biology: understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet C Semin Med Genet 151C:263–280.
    OpenUrlCrossRefPubMedWeb of Science
  11. ↵
    1. Dessaud E,
    2. McMahon AP,
    3. Briscoe J
    (2008) Pattern formation in the vertebrate neural tube: a sonic hedgehog morphogen-regulated transcriptional network. Development 135:2489–2503.
    OpenUrlAbstract/FREE Full Text
  12. ↵
    1. Wood BP,
    2. Young LW,
    3. Townes PL
    (1975) Cerebral abnormalities in the oral-facial-digital syndrome. Pediatr Radiol 3:130–136.
    OpenUrlCrossRefPubMed
  13. ↵
    1. Al-Qattan MM,
    2. Yang Y,
    3. Kozin SH
    (2009) Embryology of the upper limb. J Hand Surg Am 34:1340–1350.
    OpenUrlCrossRef
  14. ↵
    1. Butterfield NC,
    2. Metzis V,
    3. Mc Glinn E,
    4. Bruce SJ,
    5. Wainwright BJ,
    6. Wicking C
    (2009) Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb. Development 136:3515–3524.
    OpenUrlAbstract/FREE Full Text
  15. ↵
    1. Yang Y,
    2. Drossopoulou G,
    3. Chuang PT,
    4. Duprez D,
    5. Marti E,
    6. Bumcrot D,
    7. et al.
    (1997) Relationship between dose, distance and time in Sonic Hedgehog-mediated regulation of anteroposterior polarity in the chick limb. Development 124:4393–4404.
    OpenUrlAbstract
  16. ↵
    1. Al-Qattan MM
    (2011) WNT pathways and upper limb anomalies. J Hand Surg Eur Vol 36:9–22.
    OpenUrlCrossRefPubMed
  17. ↵
    1. Bastida MF,
    2. Sheth R,
    3. Ros MA
    (2009) A BMP-Shh negative-feedback loop restricts Shh expression during limb development. Development 136:3779–3789.
    OpenUrlAbstract/FREE Full Text
  18. ↵
    1. Zakany J,
    2. Duboule D
    (2007) The role of Hox genes during vertebrate limb development. Curr Opin Genet Dev 17:359–366.
    OpenUrlCrossRefPubMedWeb of Science
  19. ↵
    1. Temtamy SA,
    2. Aglan MS
    (2008) Brachydactyly. Orphanet J Rare Dis 3:15.
    OpenUrlCrossRefPubMed
  20. ↵
    1. Ferrante MI,
    2. Zullo A,
    3. Barra A,
    4. Bimonte S,
    5. Messaddeq N,
    6. Studer M,
    7. et al.
    (2006) Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet 38:112–117.
    OpenUrlCrossRefPubMedWeb of Science
  21. ↵
    1. Vortkamp A,
    2. Lee K,
    3. Lanske B,
    4. Segre GV,
    5. Kronenberg HM,
    6. Tabin CJ
    (1996) Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273:613–622.
    OpenUrlAbstract
  22. ↵
    1. Minina E,
    2. Kreschel C,
    3. Naski MC,
    4. Ornitz DM,
    5. Vortkamp A
    (2002) Interaction of FGF, Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation. Dev Cell 3:439–449.
    OpenUrlCrossRefPubMedWeb of Science
  23. ↵
    1. Koyama E,
    2. Young B,
    3. Nagayama M,
    4. Shibukawa Y,
    5. Enomoto-Iwamoto M,
    6. Iwamoto M,
    7. et al.
    (2007) Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis. Development 134:2159–2169.
    OpenUrlAbstract/FREE Full Text
  24. ↵
    1. D’Angelo A,
    2. Franco B
    (2009) The dynamic cilium in human diseases. Pathogenetics 2:3.
    OpenUrlCrossRefPubMed
  25. ↵
    1. Nishimura G,
    2. Kuwashima S,
    3. Kohno T,
    4. Teramoto C,
    5. Watanabe H,
    6. Kubota T
    (1999) Fetal polycystic kidney disease in oro-facio-digital syndrome type I. Pediatr Radiol 29:506–508.
    OpenUrlPubMed
  26. ↵
    1. Stapleton FB,
    2. Bernstein J,
    3. Koh G,
    4. Roy S 3rd.,
    5. Wilroy RS
    (1982) Cystic kidneys in a patient with oral-facial-digital syndrome type I. Am J Kidney Dis 1:288–293.
    OpenUrlPubMedWeb of Science
  27. ↵
    1. Chetty-John S,
    2. Piwnica-Worms K,
    3. Bryant J,
    4. Bernardini I,
    5. Fischer RE,
    6. Heller T,
    7. et al.
    (2010) Fibrocystic disease of liver and pancreas;under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I). Am J Med Genet A 152A:2640–2645.
    OpenUrlPubMed
  28. ↵
    1. Fischer E,
    2. Legue E,
    3. Doyen A,
    4. Nato F,
    5. Nicolas JF,
    6. Torres V,
    7. et al.
    (2006) Defective planar cell polarity in polycystic kidney disease. Nat Genet 38:21–23.
    OpenUrlCrossRefPubMedWeb of Science
    1. Simons M,
    2. Walz G
    (2006) Polycystic kidney disease: cell division without a c(l)ue? Kidney Int 70:854–864.
    OpenUrlCrossRefPubMedWeb of Science
  29. ↵
    1. Bacallao RL,
    2. McNeill H
    (2009) Cystic kidney diseases and planar cell polarity signaling. Clin Genet 75:107–117.
    OpenUrlCrossRefPubMedWeb of Science
  30. ↵
    1. Lehman JM,
    2. Laag E,
    3. Michaud EJ,
    4. Yoder BK
    (2009) An essential role for dermal primary cilia in hair follicle morphogenesis. J Invest Dermatol 129:438–448.
    OpenUrlCrossRefPubMed
  31. ↵
    1. van der Putte SC
    (1995) The pathogenesis of familial multiple cylindromas, trichoepitheliomas, milia and spiradenomas. Am J Dermatopathol 17:271–280.
    OpenUrlPubMed
  32. ↵
    1. Gerdes JM,
    2. Davis EE,
    3. Katsanis N
    (2009) The vertebrate primary cilium in development, homeostasis, and disease. Cell 137:32–45.
    OpenUrlCrossRefPubMedWeb of Science
  33. ↵
    1. Bimonte S,
    2. De Angelis A,
    3. Quagliata L,
    4. Giusti F,
    5. Tammaro R,
    6. Dallai R,
    7. et al.
    (2011) Ofd1 is required in limb bud patterning and endochondral bone development. Dev Biol 349:179–191.
    OpenUrlCrossRefPubMed
  34. ↵
    1. Hunkapiller J,
    2. Singla V,
    3. Seol A,
    4. Reiter JF
    (2011) The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells. Stem Cells Dev 20:831–841.
    OpenUrlCrossRefPubMed
  35. ↵
    1. Kolpakova-Hart E,
    2. Jinnin M,
    3. Hou B,
    4. Fukai N,
    5. Olsen BR
    (2007) Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms. Dev Biol 309:273–284.
    OpenUrlCrossRefPubMedWeb of Science
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The pathogenesis of the clinical features of oral-facial-digital syndrome type I
Wael M. AlKattan, Mohammad M. Al-Qattan, Sameer A. Bafaqeeh
Saudi Medical Journal Nov 2015, 36 (11) 1277-1284; DOI: 10.15537/smj.2015.11.12446

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The pathogenesis of the clinical features of oral-facial-digital syndrome type I
Wael M. AlKattan, Mohammad M. Al-Qattan, Sameer A. Bafaqeeh
Saudi Medical Journal Nov 2015, 36 (11) 1277-1284; DOI: 10.15537/smj.2015.11.12446
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