Etiopathogenesis of Clefts of Lip and Palate – An Invited Review

Authors

  • Diksha Singh
  • Bastian T.S
  • Manish Kumar Singh
  • Parikshit Sharma

Abstract

Orofacial clefts i.e., cleft lip (CL), cleft lip and palate (CLP), cleft palate (CP) alone, as well as median, lateral (transversal), oblique facial clefts) are among the most common congenital anomalies seen in humans

References

Aldred MA. Cleft lip and palate: new genetic clues. Trends Mol Med (2001). 7(12): 539–40.

Ardinger HH, Buetow KH, Bell GI, Bardach J, VanDemark DR, Murray JC. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet (1989). 45(3): 348–53.

Belloni E, Muenke M, Roessler E, Traverso G, Siegel- Bartelt J, Frumkin A, et al. Identification of sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet (1996).14(3): 353–56.

Bjornsson A, Arnason A, Tippet P. X-linked cleft palate and ankyloglossia in an Icelandic family. Cleft Palate J (1989). 26(1): 3–8.

Bonaiti-Pellie C, Briard ML, Feingold J, Pavy B, Psaume J, Migne-Tufferaud G, et al. An epidemiological and genetic study of facial clefting in France. Epidemiology and frequency in relatives. J Med Genet (1982). 19(1): 8–15.

Braybrook C, Doudney K, Marçano AC, Arnason A, Bjornsson A, Patton MA, et al. The T-box transcription factor gene TBX22 is mutated in X- linked cleft palate and ankyloglossia. Nat Genet (2001). 29(2): 179–83.

Brewer C, Holloway S, Zawalnyski P, Schinzel A, Fitz Patrick DA chromosomal deletion map of human malformations. Am J Hum Genet (1998). 63(4): 1153– 59.

Brewer C, Holloway S, Zawalnyski P, Schinzel A, Fitz Patrick DA chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality–and tolerance of segmental aneuploidy–in humans. Am J Hum Genet (1999). 64(6): 1702–1708.

Carinci F, Pezzetti F, Scapoli L, Padula E, Baciliero U, Curioni C, et al. Non-syndromic cleft lip and palate: evidence of linkage to a microsatellite marker on 6p23. Am J Hum Genet (1995). 56(1): 337–39.

Carinci F, Pezzetti F, Scapoli L, Martinelli M, Carinci P, Tognon M. Genetics of non-syndromic cleft lip and palate: a review of international studies and data regarding the Italian population. Cleft Palate Craniofac J (2000). 37(1): 33–40.

Casci T. Closing in on palatal disorders. Nat Rev Genet (2001). 2: 831.

Castilla EE, Lopez-Camilo JS, Campana H. Altitude as a risk factor for congenital anomalies. Am J Med Genet (1999). 86(1): 9–14.

Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell (1999). 99(2): 143–53.

Chenevix-Trench G, Jones K, Green AC, Duffy DL, Martin NG Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. Am J Hum Genet (1992). 51(6): 1377–85.

Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H. Cyclopia and defective axial patterning in mice lacking sonic hedgehog gene function. Nature (1996). 383(6599): 407–13.

Christensen K, Olsen J, Nørgaard-Pedersen B, Basso O, Støvring H, Milhollin-Johnson L, et al. Oral clefts, transforming growth factor alpha gene variants, and maternal smoking: a population-based case–control study in Denmark, 1991–1994. Am J Epidemiol (1999). 149(3): 248–55.

Clouthier DE, Hosoda K, Richardson JA, Williams SC, Yanagisawa H, Kuwaki T, et al. Cranial and cardiac neural crest defects in endothelin-A receptor- deficient mice. Development (1998). 125(5): 813–24.

Condie BG, Bain G, Gottlieb DI, Capecchi MR. Cleft palate in mice with a targeted mutation in the gamma- aminobutyric acid-producing enzyme glutamic acid decarboxylase 67. Proc Natl Acad Sci USA (1997). 94(21): 11451–55.

Cox TC, Allen LR, Cox LL, Hopwood B, Goodwin B, Haan E, et al. New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet (2000). 9(17): 2553–62.

Culiat CT, Stubbs LJ, Woychik RP, Russell LB, Johnson DK, Rinchik EM. Deficiency of the beta 3 subunit of the type A gamma-aminobutyric acid receptor causes cleft palate in mice. Nat Genet (1995). 11(3): 344–46.

Davies AF, Stephens RJ, Olavesen MG, Heather L, Dixon MJ, Magee A, et al. Evidence of a locus for oro-facial clefting on human chromosome 6p24 and STS content map of the region. Hum Mol Genet (1995). 4(1): 121–28.

Dixon MJ, Garner J, Ferguson MWJ. Immunolo- calisation of epidermal growth factor (EGF), EGF receptor and transforming growth factor alpha (TGF á) during murine palatogenesisin vitro and in vivo. Anat Embryol (1991).184(1): 83–91.

Dixon J, Edwards SJ, Anderson I, Brass A, Scambler PJ, Dixon MJ. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Res (1997). 7(3): 223– 34.

Edwards SJ, Gladwin AJ, Dixon MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature- termination codon. Am J Hum Genet (1997). 60(3): 515–24.

Downloads

Published

2014-11-17

Issue

Section

Review Article