Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2673-2679

  Neiswanger, Katherine ^a   Chirigos, Kevin W ^a   Klotz, Cherise M ^a   Cooper, Margaret E ^a   Bardi, Kathleen M ^a   Brandon, Carla A ^a   Weinberg, Seth M ^a   Vieira, Alexandre R ^a   Martin, Rick A ^b   Czeizel, Andrew E ^c   Castilla, Eduardo E ^d,e   Poletta, Fernando A ^e   Marazita, Mary L ^a,f  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Genetikai Artalmak Tarsadalmi Megelozese Alapitvany   (Hungary)

^d INSTITUTO OSWALDO CRUZ   (Brazil)

^e CEMIC   (Argentina)

^f UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

Cheiloscopy; Cleft lip; Cleft palate; Lip prints; Lip whorls

Indexed keywords

ARTICLE; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; HUMAN; LIP MALFORMATION; LOWER LIP; MAJOR CLINICAL STUDY; MALE; PHENOTYPIC VARIATION; PRIORITY JOURNAL;

CASE-CONTROL STUDIES; CLEFT LIP; CLEFT PALATE; FEMALE; HUMANS; LIP; MALE; PHENOTYPE; SEX CHARACTERISTICS;

EID: 71949111381     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33089     Document Type: Article

References (52)

1. Altman DG. 1991. Practical statistics for medical research. London: Chapman and Hall. 611 p.
2. Alvarez M, Miquel M, Castello A, Verdu FA. 2000. Persistent lipsticks and their lip prints; new hidden evidence at the crime scene. Forensic Sci Int 112:41-47.
3. Ball J. 2002. The current status of lip prints and their use for identification. J Forensic Odontostomatol 20:43-46. (Pubitemid 36142535)
4. Birnbaum S, Reutter H, Lauster C, Scheer M, Schmidt G, Saffar M, Martini M, Hemprich A, Henschke H, Kramer FJ, Mangold E. 2008. Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance. Am J Med Genet Part A 146A:787-790. (Pubitemid 351354156)
5. Blanton SH, Cortez A, Stal S, Mulliken JB, Finnell RH, Hecht JT. 2005. Variation in IRF6 contributes to nonsyndromic cleft lip and palate. Am J Med Genet Part A 137A:259-262. (Pubitemid 41262657)
6. Caldas IM, Magalhaes T, Afonso A. 2007. Establishing identity using cheiloscopy and palatoscopy. Forensic Sci Int 165:1-9.
7. Carinci F, Scapoli L, Palmieri A, Zollino I, Pezzetti F. 2007. Human genetic factors in nonsyndromic cleft lip and palate: An update. Int J Pediatr Otorhinolaryngol 71:1509-1519. (Pubitemid 47376750)
8. Cooper ME, Ratay JS, Marazita ML. 2006. Asian oral-facial cleft birth prevalence. Cleft Palate Craniofac J 43:580-589.
9. Croen LA, Shaw GM, Wasserman CR, Tolarová MM. 1998. Racial and ethnic variations in the prevalence of orofacial clefts in California, 1983-1992. Am J Med Genet 79:42-47.
10. Czeizel AE. 1997. First 25 years of the Hungarian Congenital Abnormality Registry. Teratology 55:299-305.
11. Diercks GR, Karnezis TT, Kent DT, Flores C, Su GH, Lee JH, Haddad J Jr. 2009. The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. Laryngoscope 119:1759-1764.
12. Du X, Tang W, Tian W, Li S, Li X, Liu X, Zheng X, Chen X, Lin Y, Tang Y. 2006. Novel IRF6 mutations in Chinese patients with Van der Woude Syndrome. J Dent Res 85:937-940. (Pubitemid 44578607)
13. Ghassibè M, Benedicte B, Revencu N, Verellen-Dumoulin C, Gillerot Y, Vanwijck R, Vikkula M. 2005. Interferon regulatory factor-6: A gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. Eur J Hum Genet 13:1239-1242.
14. Gorlin RJ, CohenMM,Hennekam RCM. 2001. Syndromes of the head and neck. Oxford: Oxford University Press. pp 850-876.
15. Hayes C. 2002. Environmental risk factors and oral clefts. In: Wyszynski DF, editor. Cleft lip & palate. Oxford: Oxford University Press. pp 159-169.
16. Hirth L, Goedde HW. 1977. Zur variabilität und formalin genetik der lippenfurchen. Anthropol Anz 36:51-57. (Pubitemid 8154945)
17. Hirth L, Göttsche H, Goedde HW. 1974. Untersuchungen zur variabilität und genetik der Lippenfurchen. Z Morphol Anthropol 65:362-366.
18. Hirth L,Göttsche H, Goedde HW.1975. Lippenfurchen-variabilität und genetik. Humangenetik 30:47-62.
19. Hirth L, Goedde HW, Pfeifer G, Kreybig T. 1976. Besonderheiten der Lippenfurchen bei den eltern von patienten mit lippen-kiefer-(gaumen)-spalten. Z Morphol Anthropol 67:345-352.
20. Hirth L, G€ottsche H, Goedde HW. 1977. Lip prints-variability and genetics. J Hum Evol 6:709-710.
21. Hirth L, Goedde HW, Pfeifer G, Kastein I. 1978. Lippenfurchen und hautleisten bei zwilligen mit lippen-kiefer-(gaumen)-spalten. ZMorphol Anthropol 69:197-204.
22. Jugessur A, Murray JC. 2005. Orofacial clefting: Recent insights into a complex trait. Curr Opin Genet Dev 15:270-278. (Pubitemid 40726050)
23. Jugessur A, Rahimov F, Lie1 RT, Wilcox AJ, Gjessing HK, Nilsen RM, Truc Trung Nguyen TT, Murray JC. 2008. Genetic variants in IRF6 and the risk of facial clefts: Single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. Genet Epidemiol 32:413-424.
24. Kim JO, Lee W, Hwang J, Baik KS, Chung CH. 2004. Lip print recognition for security systems by multi-resolution architecture. Fut Gen Comp Sys 20:295-301.
25. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, Ferreira de Lima RLL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. 2002. Mutations in IRF6 cause van der woude and popliteal pterygium syndromes. Nat Genet 32:285-289.
26. Lidral AC, Moreno LM. 2006. Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr 17:731-739.
27. Marazita ML. 2002. Segregation analyses. In: Wyszynski DF, editor. Cleft lip & palate. Oxford: Oxford University Press. pp 222-233.
28. Morküniené A, Steponaviciüté D, Kasnauskienè J, Kucinskas V. 2006. Nucleotide sequence changes in the MSX1 and IRF6 genes in Lithuanian patients with nonsyndromic orofacial clefting. Acta Méd Lituanica 13:219-225.
29. Mossey PA, Little J. 2002. Epidemiology of oral clefts: An international perspective. In: Wyszynski DF, editor. Cleft lip & palate. Oxford: Oxford University Press. pp 127-159.
30. Olasoji HO, Ukiri OE, Yahaya A. 2005. Incidence and aetiology of oral clefts: A review. Afr J Med Med Sci 34:1-7.
31. Park JW, McIntosh I, Hetmanski JB, Jabs EW, Vander Kolk CA, Wu-Chou YH, Chen PK, Chong SS,Yeow V, Jee SH, Park BY, Fallin MD, Ingersoll R, Scott AF, Beaty TH. 2007. Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Genet Med 9:219-227. (Pubitemid 46626091)
32. Poletta FA, Castilla EE, Orioli IM, López-Camelo JS. 2007. Regional analysis on the occurrence of oral clefts in South America. Am J Med Genet Part A 143A:3216-3227.
33. Pruszewicz A, Gasiorek J, Obrebowski A. 1988. Use of cheiloscopy in the clinical evaluation of cleft palate patients. Otolaryngol Pol 42:265-270. (Pubitemid 19103375)
34. Renaud M. 1973. Cheiloscopic identification in forensic medicine. Nouv Presse Med 2:2617-2620.
35. Rizos M, Spyropoulos MN. 2004. Van der Woude syndrome: A review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. Eur J Orthod 26:17-24. (Pubitemid 41296500)
36. Santos CM. 1967. Queiloscopy, a supplementary stomatological means of identification. Int Microform J Leg Med 2:1-15.
37. SAS Institute, Inc. 2002-2003. SAS® Procedures Guide, version 9.1.3. Cary, NC: SS Institute Inc.
38. Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M, Carinci F. 2005. Strong evidence of linkage disequilibrium between polymorphisms and the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet 76:180-183. (Pubitemid 40023778)
39. Schinzel A, Klaüser M. 1986. The Van der Woude syndrome (dominantly inherited lip pits and clefts). J Med Genet 23:291-294. (Pubitemid 16070726)
40. Sivapathasundharam B, Ajay Prakash P, Sivakumar G. 2001. Lip prints (cheiloscopy). Int J Dent Res 12:234-237.
41. Srichomthong C, Siriwan P, Shotelersuk V. 2005. Significant association between IRF6 820G!Aand nonsyndromic cleft lip with or without cleft palate in the Thai population. J Med Genet 42:e46.
42. Suazo J, Santos JL, Jara L, Blanco R. 2008. Linkage disequilibrium between IRF6 variants and nonsyndromic cleft lip/palate in the Chilean population. Am J Med Genet Part A 146A:2706-2708.
43. Suzuki K, Tsuchihashi Y. 1970. New attempt of personal identification by means of lip print. J Ind Dent Assoc 42:8-9.
44. Tang W, Du X, Feng F, Long J, Lin Y, Li P, Liu L, Tian W. 2009. Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population. Cleft Palate Craniofac J 46:89-92.
45. Tsuchihashi Y. 1974. Studies on personal identification by means of lip prints. Forensic Sci 3:233-248.
46. Vieira A. 2008. Unraveling human cleft lip and palate research. J Dent Res 87:119-125.
47. Vieira AR, Cooper ME, Marazita ML, Orioli IM, Castilla EE. 2007a. Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America. Am J Med Genet Part A 143A:2075-2078. (Pubitemid 47344275)
48. Vieira AR, Modesto A, Meira R, Barbosa ARS, Lidral AC, Murray JC. 2007b. Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. Am J Med Genet Part A 143A:538-545. (Pubitemid 46348892)
49. Vieira AR, Seymen F, Patir A, Menenzes R. 2008. Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population. Arch Oral Biol 53: 780-784.
50. Weinberg SM, Neiswanger K, Martin RA, Mooney MP, Kane AA, Wenger SL, Losee J, Deleyiannis F, Ma L, De Salamanca JE, Czeizel AE, Marazita ML. 2006. The Pittsburgh Oral-Facial Cleft study: Expanding the cleft phenotype. Background and justification. Cleft Palate Craniofac J 43:7-20.
51. Williams TR. 1991. Lip prints-Another means of identification. J Forensic Ident 41:190-194.
52. Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura KI, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC. 2004. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351:19-30. (Pubitemid 39095312)