Cleft Lip / Palate and Genetics

Year 2014, Volume: 41 Issue: 1 - Volume: 41 Issue: 1, 61 - 67, 01.02.2014

Aslı Şenol Erhan Özdiler Ayşe Tuba Altuğ

Abstract

CLP has a multifactorial etiology, comprising both genetic and environmental factors. They are congenital abnormalities which carry not only medical, but also psychological, social and economical concerns. The determination of the etiologies of cleft lip and palate is extremely important in order to improve their treatment procedures and protective approaches. Genetics is one of the most effective causes of many congenital anomalies. The genetic background of cleft lip and palate will be described in detail in this review article

Keywords

Cleft lip, cleft palate, etiology, genetics

Dudak damak yarıkları ve genetik

Abstract

Dudak damak yarñklarñ genetik ve çevresel olmak üzere multifaktoriyal bir etiyolojiye sahip, önemli medikal, psikolojik, sosyal ve ekonomik kollarñ olan yaygñn konjenital anomalilerdir. Dudak damak yarñklarñ gibi doßumsal defektlerin etiyolojisinin bilinmesi, tedavilerin geliğtirilmesi ve koruyucu yaklağñmlar açñsñndan önemli bir adñmdñr. Birçok doßumsal defektin altñnda yatan sebep genetiktir. Bu derlemede dudak damak yarñklarñnñn genetik altyapñsñ detaylñ bir ğekilde deßerlendirilecektir

Keywords

dudak yarñßñ, damak yarñßñ, etiyoloji, genetik

References

• Passarge E. Color Atlas of Genetics. Thieme, NY. Türkçe çevirmen ve çeviri Editörleri: Prof. Dr. Güven Lüleci, Prof. Dr. Meral Sakñzlñ, Prof. Dr. Özgül Alper, 3. Baskñ, 2009
• Bozkaya ÖG. Klinisyenler için muta- syon ve polimorfizm. Türkiye Klinikleri J Pe- diatr 2009;18:2:147-53.
• Moore KL., Persaud TVN. Klinik yönleriyle insan embriyolojisi. Çeviri Editör- ler: Prof. Dr. Hakkñ Dalçñk, Prof. Dr. Mehmet Yñldñrñm. Nobel Tñp Kitabevi, 2009.
• Meckel JF. Beitrage zur Gesichischte des menschlichen Foetus. Beitr Verlag Anat. 1808;1:72.
• Millard R. Cleft craft: Bilateral and Rare Deformities. Little, Brown, 1976.
• Veau V. Bec de Lievre. Hypothese sur la malformation initiale. Ann Anat Pathol Par- is. 1935;12:389.
• Dudak ve Damak Yarñklarñ. Çeviri Editörleri: Prof. Dr. Yücel Erk, Doç. Dr. Figen Özgür. Hacettepe Üniversitesi Tñp Fakültesi Plastik ve Rekonstrüktif Cerrahi Anabilim Dalñ, 1999.
• Kohli SS, Kohli VS. A comprehensive review of the genetic basis of cleft lip and pal- ate. J Oral Maxillofac Pathol. 2012 Jan-Apr; 16(1): 64–72.
• Ußar DA, Semb G. The prevalence of anomalies of the upper cervical vertebrae in subjects with cleft lip, cleft palate, or both. Cleft Palate Craniofac J. 2001;38(5):498-503.
• Ağlar D, Özdiler E, Altuß AT, Tağtan H. Determination of Methylenetetrahydrofolate Reductase (MTHFR) gene polymorphism in Turkish patients with nonsyndromic cleft lip and palate. Int J Pediatr Otorhinolaryngol. 2013 May 28. doi: pii: S0165 - 5876(13) 00181-X. 10.1016/j.ijporl. 2013.04.022. [Epub ahead of print]
• Braybrook C et al. The T-box tran- scription factor gene TBX22 is mutated in X- linked cleft palate and ankyloglossia. Nat Genet. 2001;29:179–83.
• Prescott NJ, Lees MM, Winter RM, Malcolm S. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet. 2000;106:345–50.
• Warrington A et al. Genetic evi- dence fort he role of loci at 19q13 in cleft lip and plate. J Med Genet 2006; 43:e26.
• Suzuki K et al. Mutations of PVRL1, encoding a cell-cell adhesion mole- cule/herpesvirus receptor, in cleft lip/palate- ectodermal dysplasia. Nat Genet. 2000;25:427–30.
• Sözen MA, Suzuki K, Tolarova MM, Bustos T, Fernández Iglesias JE, Spritz RA. Mutation of PVRL1 is associated with sporad- ic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet. 2001;29:141–2.
• Burdick AB. Genetic epidemiology and control of genetic expression in van der Woude syndrome. J Craniofac Genet Dev Biol Suppl. 1986;2:99–105.
• Kondo S et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat. Genet. 2002;32(2):285–9.
• Zucchero TM et al. Interferon regula- tory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N. Engl. J. Med. 2004;351(8):769–80.
• Altuß AT, ðğeri H. Witkop tooth and nail syndrome and orthodontics. The Angle Orthodontist. The Angle Orthodontist 2008;78(2):370–380.
• Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet. 1994;6(4):348-56.
• van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet. 2000;24(4):342-3.
• Jezewski PA et al. Complete se- quencing shows a role for MSX1 in non- syndromic cleft lip and palate. J Med Genet. 2003 Jun;40(6):399-407.
• Suzuki Y et al. In a Vietnamese pop- ulation, MSX1 variants contribute to cleft lip and palate. Genet Med. 2004 May- Jun;6(3):117-25.
• Lidral AC, Moreno LM, Bullard SA: Genetic Factors and Orafacial Clefting. Semin Orthod. 2008; 14(2): 103-114.
• Blanco R et al. Evidence of a sex- dependent association between the MSX1 lo- cus and nonsyndromic cleft lip with or without cleft palate in the Chilean population. Hum Bi- ol. 2001 Feb;73(1):81-9.
• Jugessur et al. Variants of develop- mental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case- parent triad analysis. Genet Epidemiol. 2003;24(3):230-9.
• Tağtan H, Özdiler E, Altug AT, Senol A, Halatlñ E, Sancak Ö. IRF6 and MSX1 Gene Polymorphisms In Nonsyndromic Cleft Lip and Palate. [SUBMITTED] Int J Pediatr Oto- rhinolaryngol.
• van der Put NM et al. Mutated meth- ylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet. 1995;346:1070–1.
• Prescott NJ, Winter RM, Malcolm S. Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate. J Med Genet. 2002;39:368–9.
• van Rooij IA et al. Does the interac- tion between maternal folate intake and the methylenetetrahydrofolate reductase polymor- phisms affect the risk of cleft lip with or with- out cleft palate? Am J Epidemiol. 2003;157:583–91.
• Chenevix-Trench G et al. 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.
• Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011;12(3):167-78.
• Saleem S, Rajendran R, Moinak B, Anna J, Pramod BJ. Evidence for transforming growth factor-beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from Indian sub-continent. Med Oral Patol Oral Cir Bucal. 2012;17(2):e197-200.
• Vieira AR, Orioli IM. Candidate genes for nonsyndromic cleft lip and palate. ASDC J Dent Child. 2001;68(4):272-9, 229.