Title
Author
DOI
Article Type
Special Issue
Volume
Issue
Genetics of cleft lip and palate revisited
1Division of Orthodontics, Department of Dental Surgery, All India Institute of Medical Sciences, New Delhi
DOI: 10.17796/jcpd.27.4.k7j3628944237392 Vol.27,Issue 4,October 2003 pp.311-320
Published: 01 October 2003
Cleft lip with or without cleft palate (CL/CP) is one of the most common structural birth defects, with treat-ment including multiple surgeries, speech therapy, and dental and orthodontic treatments over the first 18 years of life. Providing care for these patients and families includes educating patients and parents about the genetics of CL/CP, as well as meeting the immediate medical needs.Attempts at identifying susceptibility loci via family and case-control studies have proved inconsistent. It is likely that initial predictions of the complex interactions involved in facial development were underestimated.The candidate gene list for CL/P is getting longer and the need for an impartial, systematic screening technique, to implicate or refute the inclusion of particular loci, is apparent. So we are faced with the question “Can this complex trait be too complex?”The aim of this review is to make the dentist aware of the differences between syndromic and non-syndromic cleft as well as understanding the etiological variation in cleft lip with and without cleft palate. This will aid the dentist in diagnosis and give proper genetic counseling to parents and patients of cleft lip and palate.
Puneet Batra,Ritu Duggal,Hari Parkash. Genetics of cleft lip and palate revisited. Journal of Clinical Pediatric Dentistry. 2003. 27(4);311-320.
1. Cohen MM Jr. Syndromes associated with cleft lip and cleft palate. Cleft palate J 15: 306, 1978.
2. Aylsworth AS. Genetic considerations in clefts of the lip and palate - Symposium on cleft lip and cleft palate. Clinics in Plastic Surgery, Vol 12, No.4, October 1985.
3. Gorlin RJ, Pindborg JJ, Cohen MM Jr. Syndromes of the head and neck. New York, McGraw - Hill, 1976.
4. Bixler D. Genetics and clefting. Cleft Palate J 18: 10, 1981.
5. Hanson IW. Risk of offspring of women treated with hydantoin anticonvulsant with emphasis on the fetal hydantoin syndrome. J Pediatr 4: 662-668, 1989.
6. Lammer EJ, Chen DT, Hoar RM, Agnish ND, Braun JT, Curry CJ, Fenhoff PM. Retinoic acid embryopathy. N Engl J Med 313: 837- 841, 1985.
7. Khoury MJ, Gomez-Farial M, Mulinare J. Does maternal cigarette smoking cause cleft lip and palate Does maternal cigarette smoking cause cleft lip and palate in the offspring. Am Dis Child 143: 333-337, 1989.
8. Werler MM, Lammer EJ, Rosenberg L, Mitchell AA. Maternal cigarette smoking during pregnancy in relation to oral clefts. Am J Epidemiol 132: 926-932, 1990.
9. Jones KIL, Smith DW, Ulleland CN, Streissgurh AP. Pattern of malformation in offsprings of chronic alcoholic mothers. Lancet 1: 1267, 1973.
10. Tolarova M. Periconceptional supplementation with vitamins and folic acid to prevent recurrence of cleft lip. Lancet 2: 217, 1982.
11. Hartridge T, Illing HM, Sandy JR. The role of folic acid in oral clefting. Br J Orthod 26: 115- 120, 1999.
12. Fogh Andersen P. Inheritance of harelip and cleft palate Arnold Busck Copenhagen, 1942.
13. Fraser FC, Walker BE, Transler DG. Experimental production of congenital cleft palate genetic and environmental factors. Pediatrics 18: 782-787, 1957.
14. Caner CO. Genetics of common disorders. Brit Med Bull 25: 52- 57, 1969.
15. Fraser FC The genetics of cleft lip and cleft palate. Am J Hum Genet 22: 336 – 352, 1970.
16. Fraser FC. The genetics of cleft lip and palate: yet another look. In: Pratt RN4, Christiansen RL (eds) current trends in prenatal craniofacial development. North - Holland, New York 1980, pp 357 – 366, 1980.
17. Melnick MID, Bixler P, Fogh Anderson, Connolly PM. Cleft lip±cleft palate: an overview of the literature and an analysis of Dutch cases born between 1941-68.Am J Med Genetics 6: 83-97, 1980.
18. Morton NE, Yee S, Elston RC, Lew R. Discontinuity and quasi-continuity, alternative hypothesis of multifactorial inheritance. Clin Genet 1: 81-94, 1970.
19. Elston RC, Stewart J. A general model for genetic analysis of pedigree data. Hum Hered 21: 523-542, 1971.
20. Morton NE, Maclean CJ. Analysis of family resemblance III, Complex segregation of quantitative traits. Am J Hum Genet 26: 489-503, 1974.
21. Lalovel SM, Morton NE. Complex segregation analysis with pointers. Hum Hered 31: 312 –321, 1981.
22. Bixler D. Genetic couseling in dentisty. Dent Clin. North Am 19: 191, 1975.
23. Marazita ML, Hu-D-N, Spence MA, Liu YE, Melnick M. Cleft lip with or without cleft palate in Shanghai, China. Evidence for an autosomal major locus. Am J Hum Genet 51: 648-653, 1992.
24. Transler DG, Fraser FC.Time-position relationships with particular reference to cleft lip and cleft palate. In:Wilson JG, Fraser FC (eds) Handbook teratology.Vol 2 Plenum, New York, pp 271 – 292, 1977.
25. Biddle FG, Fraser FC, Juriloff CI. Major gene determination of liability to spontaneous cleft lip in the mouse. J Craniofac Genet Dev Biol (Suppl) 2: 67-68, 1986.
26. Chung CS, Bixler D, Watanbe T, Koguchi H, Anderson F. Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. Am J Hum Genet 39: 603- 611, 1986.
27. DePalpe A. Dominantly inherited cleft lip and palate letter. J Med Genet 26: 794, 1989.
28. Ray AK, Field LL, Marazita ML. Non-syndromic cleft lip with or without cleft palate in West Bengal, India : Evidence for an autosomal major locus. Am J Hum Genet 52: 1006-1011, 1993.
29. Temple K, Calvert M, Plint D, Thompson B, Pembery M. Dominantly inherited cleft lip and palate in two families. J Med Genet 26: 386-389, 1989.
30. Hecht JT. Dominantly inherited cleft lip and palate (letter to Editor). J Med Genet 27: 597-598, 1990.
31. 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 45: 348-359, 1989.
32. Qian if, May E, Feingold J, Stoll C. A novel Bam Hi polymor-phism for the human transforming growth factor alpha (TGF). Nucleic Acids Res 19: 6665, 1991.
33. Vintiner GM, Lo KK, Holder SE, Minter KM, Malcolm S. No evidence of linkage between the transforming growth factor alpha gene in families with apparent autosomal dominant inheritance of cleft lip and palate. J Med Genetics 29: 393-397, 1992.
34. Qian IF, Lazar-Wesley E, Breugnot C, May E. Human trans-forming growth factor alpha: sequence analysis of the 4.5-kb and 1.6-kb mRNA species Gene 132: 291-6, 1993.
35. Mitchell LE, Risch N. Mode of inheritence of non-syndromic cleft lip and palate: a reanalysis. Am J Hum Genet 5: 323-332, 1992.
36. Farral M and Holder S. Familial recurrence pattern analysis of cleft lip with or without palate. Am J Hum Genetics. 50: 270-277, 1992.
37. Murray JC. Face facts; genes, environment and cleft. Am J Hum Genetics 57: 227-232, 1995.
38. Clementi M, Tenconi R, Collins A, Calzolari E, Milan M. Complex segregational analysis in a sample of consecutive new-borns with cleft lip with or without cleft palate ; a comparison of Danish and Japanese data. Hum Hered 45: 157-164, 1995.
39. Pezzeti F, Scapoli L, Martinelli M, Carinci F, Bodo M, Carinci P, Tognon M. A locus in 2p13-l4, in addition to that mapped in 6pZ3, is involved in non-syndromic familial orofacial cleft malformation. Genomics 50: 299-305, 1998.
40. Pirinen S. Genetic Craniofacial abenations. Acta Odontol Scand 56: 356-359, 1998.
41. Hecht JW, Wang Y, Blanton SH, Daiger SP. Cleft lip and palate; no evidence of linkage to transforming growth factor alpha. Am J Hum Genetics 49: 682-686, 1991.
42. Wyszynski DF, Maestri N, Lewanda AF, McIntosh I, Smith BA, Gracia- Delgado C, Vinageras-Guarneros, Wulfsberg B, Beaty TH. No evidence of linkage for cleft lip with or with out cleft palate to a marker near the transforming growth factor alpha locus in two populations. Hum Genetics 9: 101-109, 1997.
43. Field LL, Ray AK and Marazita ML. Transforming growth factor alpha; a modifying locus for non-syndromic cleft lip with or without cleft palate? Eur J Hum Genetics 2: 159-165, 1994.
44. Chenvix - Trench G, Jones K, Green A, Martin N. Finding evidence for an association between genetic variation in trans-forming growth factor alpha and cleft lip and palate. Am J Hum Genet 48: 1012-1013, 1991.
45. Chenevix Trench, Jones GK, Green AC, Du DL, Martin N. Cleft lip with or without cleft palate: association with transforming growth factor alpha and retinoic acid receptor loci. Am J Hum Genet 51: 1377-1385, 1989.
46. Holder SB, Vintiner GM, Farren B, Malcolm S, Winter KM. Confirmation of an association between RFLP’s at the trans-forming growth factor alpha locus and nonsyndromic cleft lip and palate. J Med Genetics 29: 390-92, 1992.
47. Sassani R, Barttett SP, Hongshu F, Goldner-Sauve A, Haq Ak, Buetow KH, Gasser DL. Association b/w alleles of the trans-forming factor alpha lows and the occurence of cleft lip J Med Genet 45: 565-569, 1993.
48. Stoll C, Quian IF, Feringold J, Sauvage P, May B. Genetic variation in transforming growth factor alpha: possible association of Bam HI polymorphism with bilateral sporadic cleft lip and palate. Am J Hum Genetics 92: 81-82, 1993.
49. Jara L, Blanco R, Chiffelle I, Palomino H and Carreno H. Association between alleles of the transforming growth factor alpha locus and cleft lip and cleft palate in the Chilean popula-tion. Am J Med Genet 57: 548-51, 1995.
50. FengH, Sassani R, Bartlett SP, Lee A, Hecht IT, Malcolm S, Winter RM, Vintiner GM, Buetow KH, Gasser DL. Evidence from family studies, for linkage disequilibrium between TGFA and a gene for non syndromic cleft lip with or without palate. Am J Hum Genetics 55: 932-936, 1994.
51. Mitchell LB. Transforming growth factor alpha locus and non syndromic cleft lip with or without cleft palate; a reappraisal. Genet Epemiol 4: 231-240, 1997.
52. Shaw GM, Wasserman CR,Lammer BJ, O’Malley CD, Murray JC, Basart Amand Tolarova MM. Orofacial clefts, parentral cigarette smoking and transforming growth factor alpha gene variants. Am J Hum Genetics 58: 551-561, 1996.
53. Beiraghi S,Foround T, Dlouty 5, Bixler D, Delohter- Blanchet D, Conneally PM and Hodes ME. Possible localization of a major gene for cleft lip and palate to 4q. Clin Genet 46: 255-256, 1994.
54. Mitchell LE, Healey SC Chenevix- Trench G. Evidence for an association between nonsyndromic cleft lip with or with out cleft palate and a gene located on the long arm of the chromo-some 4. Am J Hum Genetics 57: 1130-1136, 1995.
55. Biberg H, Bixler D, Nielsen LS, Conneally PM, Mohr J. Suggestion of linkage of a major locus for non syndromic orofa-cial cleft with F13A and tentative assignment to chromosome 6. ClinGenet 32:129-132, 1987.
56. Hecht JT, Wang Y, Connor B, Blanton SH and Daiger SP. Non syndromic cleft lip and palate- no evidence of linkage to HLA or factor 13A. Am J Hum Genetics 52: 1230-1233, 1993.
57. Blanton SH, Crowder B, Malcolm 5, Winter R. Gasser DL, Stal 5, Mulliken J and Hecht JT. Exclusion of linkage between cleft lip with or without cleft palate and marker on chromosome 4 and 6. Am J Hum Genetics 58: 239-241, 1996.
58. Korman-Bortolotto MIII, FarTh LMS, Soares D, Corbani M, Muller R and Adell ACA. Terminal deletion 6p%3; a case report. Am J Med Genetics 37: 475-477, 1990.
59. Donnai D, Heather U, Sinclair P, Thakker Y, Scambler P and Dixon MJ. Association of autosomal dominant cleft lip palate and translocation 6p23;9q22.3. Clin Dysmorph 1: 89-97, 1992.
60. Mehra S, Verma IC. Ecogenetics of congenital craniofacial malformation. International Committee on The Human Genome. Am J Hum Genetics 1: 49 (Suppl.): AJSO, 1999.
61. Van Dyke DC, Goldman AS, Spielman RS, Zmijewski CM, Oka SW. Segregation of HLA in sibs with cleft lip or cleft lip and palate: evidence against linkage. Cleft Palate J 17: 189-193, 1980.
62. Wantanbe T, Ohishi M, Tashiro H. Population and family studies of HLA in Japanese with cleft lip and palate. Cleft Palate J 21: 293- 300, 1984.
63. Davies AF, Stephens RJ, Olavesen MG, Heather L, Dixon MJ, Magee A, Flinter F, Ragoussis J. Evidence of a locus for oro-facial clefting on human chromosome 6pYt and STS content map of the region. Hum Mol Genetics 4: 121-128, 1995.
64. Carinci F, Pezzeti F, Scapoli L, Padula B, Baciliero U, Curioni C, Tognon M. Non syndromic cleft lip and palate : evidence of link-age to microsatellite markers on 6p23. Am J Hum Genetics 56: 337- 339, 1995.
65. Scapoli L, Pezzetti F, Carinci F, Martinelli M, Carinci P, Tognon M. Genetic heterogeneity and evidence of linkage to 6pZ3 in non syndromal cleft lip with or without cleft palate. Genomics 43: 216-220, 1997.
66. Shaw D, Ray A, Marazita M, and Field L. Further evidence of a relationship between the retenoic acid receptor alpha locus and non syndromic cleft lip with or without palate. Am J Hum Genetics 53: 1156-1157, 1993.
67. Vintiner GM, Lo KK, Holder SB, Minter RM, Malcolm S. Exclusion of candidate genes from a role in cleft lip with or without cleft palate : linkage and association studies. J Med Genetics 30: 773-778, 1993.
68. Stein J, Hecht JT, Blanton SH. Exclusion of retenoic acid receptor and a cartilage matrix protein in non syndromic CL(P) families. J Med Genetics 32: 78, 1995.
69. Stein J, Mulliken JB, Stal S, Gasser DL, Malcolm S, Winter R. Blanton SH, Amos C, Seemanova B, Hecht JT. Non syndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. Am J Hum Genetics 57: 257- 272, 1995.
70. Amos C, Gasser D, Hecht IF. Non syndromic cleft lip with or without cleft palate: new BCL3 information. Am J Hum Genetics 59: 743-744, 1996.
71. Wyszynski DF, Maestri N, McIntosh I, Smith BA, Lewanda AF, Garcia-Delgado C, Vinageras-Guarneros B, Wulfsberg B, Beaty TH. Evidence for an association between markers on chromosome 19q and non syndromal cleft lip with or without cleft palate in two groups of multiplex families. Hum Genetics 9: 22- 26, 1997.
72. Martinelli M, Scapoli L, Pezzetti F, Carinci F, Carinci P, Baciliero U, Padula B and Tognon M. Suggestive linkage between mark-ers on chromosome 19q13.2 and non syndromic orofacial cleft malformation. Genomics 51: 177-181, 1998.
73. Andrew B. Poole. The Dental Clinics of North America -Symposium on genetics. Vol 19/No 1 Jan 1975.
74. Mossey PA. The heritability of malocclusion: Part 1- Genetics, principles and terminology. Br J Orthod 26: 103-113, 1999.
75. Gruneberg H. Genetical studies on the skeleton of the Moose IV. Quasicontinuous variations. J Genet 51: 95-114, 1952.
76. Ferguson MWJ. Palate development. Development 103: 41-60, 1988.
77. Bonaiti-Pellie C, Briand ML, Feingold J, Pavy B, Psaume J, Migne-Tuffer G, Kaplan J. An epideiological and genetic study of facial clefting in France I. Epidemiological and frequency in relatives. J Med Genetics 1: 374-377, 1982.
78. Milan M, Astolfi G, Volpato 5, Garani GP, Clementi M, Tenconi R. Boni S, Calzolari B. 766 cases of oral cleft in Italy. Data from Emilia-Romagna (lIMIER) and North east Italy (NEI) register. Bur J Epidemiol 10: 317-324, 1994.
79. Woolf CM, Wolf RM and Broadbent TR. A genetic study of cleft lip and palate in Utah. Am J Hum Genetics 15: 209-215, 1963.
80. Shield ED, Bixier D, Fogh Anderson. Cleft palate: a genetic and epidemiologic investigation. Clin Genetics 20: 13-24, 1981.
81. Fitzpatrick D, Farral M. An estimation of the number of suscep-tibility loci for isolated cleft palate. J Craniofac Genet Dev Biol 13: 230-235, 1993.
82. Christensen K, Mitchell LB. Familial recurrence pattern analysis of non-syndromal isolated cleft palate-A Danish registry study. Am J Hum Genetics 58: 182-190, 1996.
83. Christensen K, Fogh Anderson P. Etiological subgroups in non-syndromal isolated cleft palate. A genetic epidemiological study of 52 Danish birth cohorts. Clin Genetics 46: 329-335, 1994.
84. Shiang R. Lidral AC, Ardinger HH, Buetow KH, Romitti PA, Munger RG, Murray JC. Association of transforming growth factor alpha 4 gene polymorphism with non syndromal cleft palate only. Am J Hum Genetics 53: 836-843, 1993.
85. Lidral AC, Romitti PA, Basart AM, Doetschman T, Leysens NJ, Daack-Hirsch 5, Semina EV, Johnson LR. Machida J, Burds A, Parnell TJ, Rubenstein JlL, Murray JC. Association of MSX1 and TGFB3 with non syndromal clefting in humans. Am J Hum Genetics 63: 557-568, 1998.
86. Forbes SA, Brennan L, Richarson M, Coffey A, Cole CG, Gregory SG, Bentley DR, Mumm S, Moore GB, Stainer P. Refined mapping and YAC contig construction of the X- linked cleft palate and ankyloglossia locus including the proximal X-Y homology breakpoint within Xq2l.3. Genomics 31: 36-43, 1996.
87. Van der Woude syndrome. A case report. Pediatr Dermatol 15: 459- 463, 1998.
88. Tolarova M, Zwinger A. The use of fetosocopy in born morpho-logical anomalies Rozhledy V. Chisurgii 10: 758, 1981.
89. Elejalde M, Blejalde MC. Fetal phenotypic analysis. Indian T. Pediatr 53: 477, 1986.
90. Zavala C, Saavedra D, Samperio-Sanchez LM. Differences in recurrence risk for siblings for cleft lip and/or palate depending on the degree of the malformation and on family history. Rev Invest Clin 35: 49-53, 1983.
91. Anderson CE, Rotter JI, Zonana J Hereditary considerations in common disorders. Pediatr Clin North Am 25: 539-56, 1978.
92. Kadasi L, Ferak V, Gencik A, Demjen S. Recurrence risk figures for cleft lip and/or cleft palate. Bratisl Lek Listy 69: 286-91, 1978.
93. Bonaiti-Pellie C, Feingold J, Briard ML, Frezal J. Risk of recurrence of several congenital malformations: anencephaly, spina bifida, cleft palate and cleft lip. Arch Fr Pediatr 33: 973-86, 1976.
94. Spence MA, Westlake J, Lange K, Gold DP. Estimation of poly-genic recurrence risk for cleft lip and palate. Hum Hered 26: 327- 36, 1976.
95. Bonaiti-Pellie C, Smith C. Risk tables for genetic counseling in some common congenital malformations. J Med Genet 1: 374-7, 1974.
96. Carter CO. Recurrence risk of common congenital malforma-tions. Practitioner 3: 667-74, 1974.
97. Tolarova M, Morton NE. Cleft lip and palate-recurrence risk and genetic counseling.Acta Univ Carol Med Monogr 56: 83-90, 1973.
98. Tolarova M. Empirical recurrence risk figures for genetic counseling of clefts. Acta Chir Plast 14: 234-5, 1972.
99. Smith DW, Aase JM. Polygenic inheritance of certain common malformations. Evidence and empiric recurrence risk data. J Pediatr 76: 652-9, 1970.
100. Tenconi R. Clementi M, Turolla L. Theoretical recurrence risks for cleft lip derived from a population of consecutive newborns. J Med Genet 25: 243-6, 1988.
Science Citation Index Expanded (SciSearch) Created as SCI in 1964, Science Citation Index Expanded now indexes over 9,500 of the world’s most impactful journals across 178 scientific disciplines. More than 53 million records and 1.18 billion cited references date back from 1900 to present.
Biological Abstracts Easily discover critical journal coverage of the life sciences with Biological Abstracts, produced by the Web of Science Group, with topics ranging from botany to microbiology to pharmacology. Including BIOSIS indexing and MeSH terms, specialized indexing in Biological Abstracts helps you to discover more accurate, context-sensitive results.
Google Scholar Google Scholar is a freely accessible web search engine that indexes the full text or metadata of scholarly literature across an array of publishing formats and disciplines.
JournalSeek Genamics JournalSeek is the largest completely categorized database of freely available journal information available on the internet. The database presently contains 39226 titles. Journal information includes the description (aims and scope), journal abbreviation, journal homepage link, subject category and ISSN.
Current Contents - Clinical Medicine Current Contents - Clinical Medicine provides easy access to complete tables of contents, abstracts, bibliographic information and all other significant items in recently published issues from over 1,000 leading journals in clinical medicine.
BIOSIS Previews BIOSIS Previews is an English-language, bibliographic database service, with abstracts and citation indexing. It is part of Clarivate Analytics Web of Science suite. BIOSIS Previews indexes data from 1926 to the present.
Journal Citation Reports/Science Edition Journal Citation Reports/Science Edition aims to evaluate a journal’s value from multiple perspectives including the journal impact factor, descriptive data about a journal’s open access content as well as contributing authors, and provide readers a transparent and publisher-neutral data & statistics information about the journal.
Scopus: CiteScore 1.8 (2023) Scopus is Elsevier's abstract and citation database launched in 2004. Scopus covers nearly 36,377 titles (22,794 active titles and 13,583 Inactive titles) from approximately 11,678 publishers, of which 34,346 are peer-reviewed journals in top-level subject fields: life sciences, social sciences, physical sciences and health sciences.
Top