GLOSA LUB KOMENTARZ PRAWNICZY
Gen MSX1 w etiologii wad rozwojowych twarzoczaszki
Anna Paradowska-Stolarz 11. Department of Dentofacial Anomalies, Department of Orthodontics and Dentofacial Orthopedics, Wrocław Medical University, Poland
Opublikowany: 2015-12-31
GICID: 01.3001.0009.6619
Dostępne wersje językowe: pl en
Wydanie: Postepy Hig Med Dosw 2015; 69 : 1499-1504
Abstrakt
Przypisy
- 1. Abu-Hussein M.: Cleft lip and palate – etiological factors. Dent.Med. Probl., 2012; 49: 149-156
Google Scholar - 2. Babich S.B., Banducci C., Teplitsky P.: Dental characteristics ofthe Wolf-Hirschhorn syndrome: a case report. Spec. Care Dentist.,2004; 24: 229-231
Google Scholar - 3. Battaglia A., Filippi T., Carey J.C.: Update on the clinical featuresand natural history of Wolf-Hirschhorn (4p-) syndrome: experiencewith 87 patients and recommendations for routine health supervision.Am. J. Med. Genet. C Semin. Med. Genet., 2008: 148C: 246-251
Google Scholar - 4. Bendall A.J., Abate-Shen C.: Roles for Msx and Dlx homeoproteinsin vertebrate development. Gene, 2000; 247: 17-31
Google Scholar - 5. Benko S., Fantes J.A., Amiel J., Kleinjan D.J., Thomas S., RamsayJ., Jamshidi N., Essafi A., Heaney S., Gordon C.T., McBride D., GolzioC., Fisher M., Perry P., Abadie V., Ayuso C., et al.: Highly conservednon-coding elements on either side of SOX9 associated with PierreRobin sequence. Nat. Genet., 2009; 41: 359-364
Google Scholar - 6. Brook A.H.: Multilevel complex interactions between genetic,epigenetic and environmental factors in the aetiology of anomaliesof dental development. Arch. Oral Biol., 2009; 54, S3-S17
Google Scholar - 7. Chishti M.S., Muhammad D., Haider M., Ahmad W.: A novel missensemutation MSX1 underlines autosomal recessive oligodontiawith associated dental anomalies in Pakistani families. J. Hum. Genet.,2006; 51: 872-878
Google Scholar - 8. Cobourne M.T.: The complex genetics of cleft lip and palate. Eur.J. Orthod., 2004; 26: 7-16
Google Scholar - 9. Davidson D.: The function and evolution of Msx genes: pointersand paradoxes. Trends Genet., 1995; 11: 405-411
Google Scholar - 10. Devadas S., Varma B., Mungara J., Joseph T., Saraswathi T.R.: Witkoptooth and nail syndrome: a case report. Int. J. Paediatr. Dent.,2005; 15: 364-369
Google Scholar - 11. Elder F.F., Colasurdo G.N., Rose V.M.: Wolf-Hirschhorn-Pitt-Rogers-Danksphenotype with no detectable deletion. Am. J. Hum.Genet., 2000; 67; suppl. 2: 119
Google Scholar - 12. Etheredge A.J., Christensen K., Del Junco D., Murray J.C., MitchellL.E.. Evaluation of two methods for assessing gene-environmentinteractions using data from the Danish case-control studyof facial clefts. Birth Defects Res. A Clin. Mol. Teratol., 2005; 73:541-546
Google Scholar - 13. Figueroa A.A., Glupker T.J., Fitz M.G., BeGole E.A.: Mandible,tongue and airway in Pierre Robin sequence: a longitudinal cephalometricstudy. Cleft Palate Craniofac. J., 1991; 28: 425-434
Google Scholar - 14. Ghaderi F., Hekmat S., Ghaderi R., Fardei M.: MSX1 mutation inWitkop syndrome; a case report. Iran J. Med. Sci., 2013; 38: 191-194
Google Scholar - 15. Giansanti J.S., Long S.M., Rankin J.L.: The “tooth and nail” typeof autosomal dominant ectodermal dysplasia. Oral Surg. Oral Med.Oral Pathol., 1974; 37: 576-582
Google Scholar - 16. Hanley-Lopez J., Estabrooks L.L., Stiehm R.: Antibody deficiencyin Wolf-Hirschhorn syndrome. J. Pediatr., 1998; 133: 141-143
Google Scholar - 17. Hirschhorn K, Cooper H.L.: Apparent deletion of one chromosome(4 or 5) in a child with defects of midline fusion. Hum. Chrom.News, 1961; 4: 14
Google Scholar - 18. Hozyasz K.: Wpływ czynników środowiskowych na występowaniewad rozszczepowych twarzoczaszki. Med. Rodz., 1999; 2: 11-17
Google Scholar - 19. Hudson C.D., Witkop C.J.: Autosomal dominant hypodontia withnail dysgenesis. Report of twenty-nine cases in six families. OralSurg. Oral Med. Oral Pathol., 1975; 39: 409-423
Google Scholar - 20. Ivens A., Flavin N., Williamson R., Dixon M., Bates G., BuckinghamM., Robert B.: The human homeobox gene HOX7 maps tochromosome 4p16.1 and may be implicated in Wolf-Hirschhornsyndrome. Hum. Genet., 1990; 84: 473-476
Google Scholar - 21. Jagomӓgi T., Nikopensius T., Kjutskov K., Tammekivi V., ViltropT., Saag M., Metspalu A.: MTHFR and MSX1 contribute to the risk ofnonsyndromic cleft lip/palate. Eur. J. Oral Sci., 2010; 118: 213-220
Google Scholar - 22. Jakobsen L.P., Knudsen M.A., Lespinasse J., Ayuso C.G., Ramos C.,Fryns J.P., Bugge M., Tommerup N.: The genetic basis of Pierre RobinSequence. Cleft Palate Craniofac. J., 2006; 43: 155-159
Google Scholar - 23. Jezewski P.A., Vieira A.R., Nishimura C., Ludwig B., Johnson M.,O’Brien S.E., Daack-Hirsch S., Schultz R.E., Weber A., Nepomucena B.,Romitti P.A., Christensen K., Orioli I.M., Castilla E.E., Machida J., NatsumeN., Murray J.C.: Complete sequencing shows a role for MSX1 innon-syndromic cleft lip and palate. J. Med. Genet., 2003; 40: 399-407
Google Scholar - 24. Jędryszek A., Kmiecik M., Paszkiewicz A.: Review of modernknowledge on hypodontia. Dent. Med. Probl., 2009; 46: 118-125
Google Scholar - 25. Johnston N.J. Franklin D.L.: Dental findings of a child with Wolf–Hirschhorn syndrome. Int. J. Paediatr. Dent., 2006; 16: 139-142
Google Scholar - 26. Jumlongras D., Bei M., Stimson J.M., Wang W.F., DePalma S.R.,Seidman C.E., Felbor U., Maas R., Seidman J.G., Olsen B.R.: A nonsensemutation in MSX1 causes Witkop syndrome. Am. J. Hum. Genet.,2001; 69: 67-74
Google Scholar - 27. Kamamoto M., Machida J., Yamaguchi S., Kimura M., Ono T., JezewskiP.A., Higashi Y., Nakayama A., Shimozato K., Tokita Y.: Clinicaland functional data implicate the Arg(151)Ser variant of MSX1 infamilial hypodontia. Eur. J. Hum. Genet., 2011; 19: 844-850
Google Scholar - 28. Kapadia H., Mues G., D’Souza R.: Genes affecting tooth morphogenesis.Orthod. Craniofac. Res., 2007; 10: 105-113
Google Scholar - 29. Kohli S.S., Kohli V.S.: A comprehensive review of the geneticbasis of cleft lip and palate. J. Oral Maxillofac. Pathol., 2012; 16: 64-72
Google Scholar - 30. Koillinen H., Ollikainen V., Rautio J., Hukki J., Kere J.: Linkageand linkage disequilibrium searched for between non-syndromiccleft palate and four candidate loci. J. Med. Genet., 2003; 40: 464-468
Google Scholar - 31. Larson M., Helidust R., Jakobsson O.P.: Dentalabnormalities andectopic eruption in patients with isolated cleft palate. Scand. J. Plast.Reconstr. Surg. Hand Surg., 1997; 32: 203-212
Google Scholar - 32. Liang J., Zhu L., Meng L., Chen D., Bian Z.: Novel nonsense mutationin MSX1 causes tooth agenesis with cleft lip in a Chinese family.Eur. J. Oral Sci., 2012; 120: 278-282
Google Scholar - 33. Lurie I.W., Lazjuk G.I., Ussova Y.I., Presman E.B., Burevich D.B.:The Wolf-Hirschhorn syndrome. I. Genetics. Clin. Genet., 1980; 17:375-384
Google Scholar - 34. MacKenzie A., Leeming G.L., Jowett A.K., Ferguson M.W., SharpeP.T.: The homeobox gene Hox 7.1 has specific regional and temporalexpression patterens during early murine craniofacial embryogenesis,especially tooth development in vivo and in vitro. Development,1991; 111: 269-285
Google Scholar - 35. Mielnik-Błaszczak M., Piątkowska A., Machowska A., BukowskaB.: Tooth Genesis – a review of literture and own case studies. Dent.Med. Probl., 2012; 49: 293-298
Google Scholar - 36. Mitchell L.E., Murray J.C., O’Brien S., Christensen K.: Evaluationof two putative susceptibility loci for oral clefts in the Danish population.Am. J. Epidemiol., 2001; 153: 1007-1015
Google Scholar - 37. Modesto A., Moreno L.M., Krahn K., King S., Lidra A.C.: MSX1and orofacial clefting with and without tooth agenesis. J. Dent. Res.,2006; 85: 542-546
Google Scholar - 38. Moore G., Ivens A., Chambers J., Bjornsson A., Arnason A., JenssonO., Williamson R.: The application of molecular genetics to detectionof craniofacial abnormality. Development, 1988; 103: 233-239
Google Scholar - 39. Mostowska A., Biedziak B., Jagodziński P.P.: Analysis of the codingsequence of the MSX1 and PAX9 gnes in patients with congenitallack of permanent teeth. Dent. Med. Probl., 2012; 49: 157-165
Google Scholar - 40. Nieminen P., Kotilainen J., Aalto Y., Knuutila S., Pirinen S., ThesleffI.: MSX1 gene is deleted in Wolf-Hirschhorn syndrome patientswith oligodontia. J. Dent. Res., 2003; 82: 1013-1017
Google Scholar - 41. Pitt, D.B., Rogers, J.G., Danks, D.M.: Mental retardation, unusualface, and intrauterine growth retardation: a new recessive syndrome?Am. J. Med. Genet., 1984; 19: 307-313
Google Scholar - 42. Rainger J.K., Bhatia S., Bengani H., Gautier P., Rainger J., PearsonM., Ansari M., Crow J., Mehendale F., Palinkasova B., Dixon M.J.,Thompson P.J., Martin M., Sisodiya S.M., Kleinjan D.A., FitzpatrickD.R.: Disruption of SATB2 or its long-range cis-regulation by SOX9causes a syndromic form of Pierre Robin sequence. Hum. Mol. Genet.,2014; 15: 2569-2579
Google Scholar - 43. Rychlik D., Wójcicki P., Koźlik M.: Osteoplasty of the alveolarcleft defect. Adv. Clin. Exp. Med., 2012; 21: 255-262
Google Scholar - 44. Salahshourifar I., Halim A.S., Wan Sulaiman W.A., ZilfalilB.A.: Contribution of MSX1 variants to the risk of non-syndromiccleft lip and palate in a Malay population. J. Hum. Genet.,2011; 56: 755-758
Google Scholar - 45. Satokata I., Maas R.: Msx1 deficient mice exhibit cleft palateand abnormalities of craniofacial and tooth development. Nat. Genet.,1994;6: 348-356
Google Scholar - 46. Schutte B.C., Murray J.C.: The many faces and factors of orofacialclefts. Hum. Mol. Genet., 1999; 8: 1853-1859
Google Scholar - 47. Shannon N.L., Maltby E.L., Rigby A.S., Quarrell O.W.: An epidemiologicalstudy of Wolf-Hirschhorn syndrome: life expectancy andcause of mortality. J. Med. Genet., 2001; 38: 674-679
Google Scholar - 48. Sifakis S., Manolakos E., Vetro A., Kappou D., Peitsidis P.,Kontodiou M., Garas A., Vrachnis N., Konstandinidou A., ZuffardiO., Orru S., Papoulidis I.: Prenatal diagnosis of Wolf-Hirschhornsyndrome confirmed by comparative genomic hybridization array:report of two cases and review of the literature. Mol. Cytogenet.,2012; 5: 12
Google Scholar - 49. Stanier P., Moore G.E.: Genetics of cleft lip and palate: syndromicgenes contribute to the incidence of non-syndromic clefts. Hum.Mol. Genet., 2004; 13: R73-R81
Google Scholar - 50. Stec I., Wright T.J., van Ommen G.J., de Boer P.A., van HaeringenA., Moorman A.F., Altherr M.R., den Dunnen J.T.: WHSC1, a 90 kbSET domain containing gene, expressed in early development andhomologous to a Drosophila dysmorphy gene maps in the Wolf–Hirschhorn syndrome critical region and is fused to IgH in t(4;14)multiple myloma. Hum. Mol. Genet., 1998; 7: 1071-1082
Google Scholar - 51. Steponavičiūtė D., Kasnauskienė J., Kučinskas V.: Nucleotidesequence changes in the MSX1 and IRF6 genes in Lithuanian patientswith nonsyndromic orofacial clefting. Acta Med. Lithuanica,2006; 13: 216-225
Google Scholar - 52. Subramaniam P., Neeraja G.: Witkop’s tooth and nail syndrome:a multifaceted approach to dental management. J. Indian. Soc. Pedod.Prev. Dent., 2008; 26: 22-25
Google Scholar - 53. Suri S., Ross R.B., Tompson B.D.: Mandibular morphology andgrowth with and without hypodontia in subjects with Pierre Robinsequence. Am. J. Orthod. Dentofac. Orthop., 2006; 130: 37-46
Google Scholar - 54. Szeląg J., Noga L., Orłowska K., Pałka Ł., Paradowska A.: Analizawpływu endo- i egzogennych czynników ryzyka w etiologii rozszczepówpodniebienia pierwotnego i wtórnego. Dent. Med. Probl.,2006; 43: 556-562
Google Scholar - 55. Świder K., Szozda A., Tokarski T.: Prosthodontic treatment ofchildren – case reports. Dent. Med. Probl., 2013; 50: 106-113
Google Scholar - 56. Tortora C., Meazzini M.C., Garratini G., Brusati R.: Prevalence ofabnormalities in dental structure, position and eruption pattern ina population of unilateral and bilateral cleft lip and palate patients.Cleft Palate Craniofac. J., 2008; 45: 154-162
Google Scholar - 57. van den Boogaard M.J., Creton M., Bronkhorst Y., van der HoutA., Hennekam E., Lindhout D., Cune M., Ploos van Amstel H.K.:WNT10A, rather than MSX1 is a major cause of non-syndromic hypodontia.J. Med. Genet., 2012; 49: 327-331
Google Scholar - 58. van den Boogaard M.J., de Costa D., Krapels I.P., Liu F., van DuijnC., Sinke R.J., Lindhout D., Steegers-Theunissen R.P.: The MSX1allele 4 homozygous child exposed to smoking at periconception ismost sensitive in developing nonsyndromic orofacial clefts. Hum.Genet., 2008; 124: 525-534
Google Scholar - 59. Vieira A.R., Orioli I.M., Castilla E.E., Cooper M.E., Marazita M.L.,Murray J.C.: MSX1 and TGFβ3 contribute to clefting in south America.J. Dent. Res., 2003; 82: 289-292
Google Scholar - 60. Wang J., Jjan F., Chen J., Wang H., Lin Y., Yang Z., Pan X., Lai W.:Sequence analysis of PAX9, MSX1 and AXIN2 genes in a Chinese oligodontiafamily. Arch. Oral Biol., 2011; 56: 1027-1034
Google Scholar - 61. Wieczorek D., Krause M., Majewski F., Albrecht B., Horn D., RiessO, Gillessen-Kaesbach G.: Effect of the size of the deletion and clinicalmanifestation in Wolf-Hirschhorn syndrome: analysis of 13 patientswith a de novo deletion. Eur. J. Hum. Genet., 2000; 8: 519-526
Google Scholar - 62. Witkop C.J.: Genetic disease of the oralcavity. In: Tiecke R.W.(ed.) Oralpathology. Blakiston Division, McGraw-Hill, New York,1965, 810-814
Google Scholar - 63. Wright T.J., Ricke D.O., Denison K., Abmayr S., Cotter P.D., HirschhornK., Keinanen M., McDonald-McGinn D., Somer M., SpinnerN., Yang-Feng T., Zackai E., Altherr M.R.: A transcript map of thenewly defined 165kb Wolf-Hirschhorn syndrome critical region.Hum. Mol. Genet., 1997; 6: 317-324
Google Scholar - 64. Zabawski E.J.Jr., Cohen J.B.: Hereditary hypodontia and onochorrhexisof the fingernails and toenail koilonychias: Witkop’s toothand nail syndrome. Dermatol. Online J., 1999; 5: 3
Google Scholar - 65. Zollino M., Lecce R., Fischetto R., Murdolo M., Faravelli F., SelicorniA., Buttè C., Memo L., Capovilla G., Neri G.: Mapping the Wolf–Hirschhorn syndrome phenotype outside the currently acceptedWHS critical region and defining a new critical region, WHSCR-2.Am. J. Hum. Genet.,. 2003; 75: 590-597
Google Scholar