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Nonsyndromic cleft lip with or without cleft palate

MedGen UID:
349304
•Concept ID:
C1861538
•
Finding

Professional guidelines

PubMed

Genetic Risk Assessment of Nonsyndromic Cleft Lip with or without Cleft Palate by Linking Genetic Networks and Deep Learning Models.
Kang G, Baek SH, Kim YH, Kim DH, Park JW
Int J Mol Sci 2023 Feb 25;24(5) doi: 10.3390/ijms24054557. PMID: 36901988Free PMC Article
Maternal genotypes of folate/one-carbon metabolism gene variants and nonsyndromic cleft lip with or without cleft palate risk in Chile.
Inostroza V, Salamanca C, Recabarren AS, Pantoja R, Leiva N, Pardo R, Suazo J
Eur J Oral Sci 2021 Oct;129(5):e12813. Epub 2021 Jul 21 doi: 10.1111/eos.12813. PMID: 34289180
Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate.
Miller SF, Weinberg SM, Nidey NL, Defay DK, Marazita ML, Wehby GL, Moreno Uribe LM
J Anat 2014 Jun;224(6):688-709. Epub 2014 Apr 16 doi: 10.1111/joa.12182. PMID: 24738728Free PMC Article

Recent clinical studies

Etiology

Association of BMP4 rs17563 Polymorphism with Nonsyndromic Cleft Lip with or without Cleft Palate Risk: Literature Review and Comprehensive Meta-Analysis.
Bahrami R, Dastgheib SA, Niktabar SM, Amooee A, Lookzadeh MH, Mirjalili SR, Noorishadkam M, Bahrololoomi Z, Neamatzadeh H
Fetal Pediatr Pathol 2021 Aug;40(4):305-319. Epub 2020 Jan 7 doi: 10.1080/15513815.2019.1707916. PMID: 31909686
Association between MAFB rs17820943 and rs6072081 polymorphism and risk of nonsyndromic cleft lip with or without cleft palate: a meta-analysis.
Liang X, Huang L, Ou Y, He Y, Tang S
Br J Oral Maxillofac Surg 2020 Nov;58(9):1065-1072. Epub 2020 Jul 6 doi: 10.1016/j.bjoms.2020.05.034. PMID: 32646788
Association Between IRF6 Variants and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.
Suazo J, Recabarren AS, Marín NR, Blanco R
Reprod Sci 2020 Oct;27(10):1857-1862. Epub 2020 Jun 12 doi: 10.1007/s43032-020-00203-9. PMID: 32533457
Current concepts on cleft lip and palate etiology.
Candotto V, Oberti L, Gabrione F, Greco G, Rossi D, Romano M, Mummolo S
J Biol Regul Homeost Agents 2019 May-Jun;33(3 Suppl. 1):145-151. DENTAL SUPPLEMENT. PMID: 31538461
Association between the IRF6 rs2235371 polymorphism and the risk of nonsyndromic cleft lip with or without cleft palate in Chinese Han populations: A meta-analysis.
Xia Y, Hu B, Chen J, Zheng L, Song J
Arch Oral Biol 2017 Dec;84:161-168. Epub 2017 Oct 2 doi: 10.1016/j.archoralbio.2017.09.032. PMID: 29017114

Diagnosis

Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate.
Xu T, Du M, Bu X, Yuan D, Gu Z, Yu P, Li X, Chen J, Jin C
BMC Med Genomics 2021 Feb 23;14(1):53. doi: 10.1186/s12920-021-00903-4. PMID: 33622322Free PMC Article
Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree.
Meng P, Zhao H, Huang W, Zhang Y, Zhong W, Zhang M, Jia P, Zhou Z, Maimaitili G, Chen F, Zhang J, Lin J
Mol Genet Genomic Med 2019 Sep;7(9):e714. Epub 2019 Aug 6 doi: 10.1002/mgg3.714. PMID: 31386309Free PMC Article
Association between the IRF6 rs2235371 polymorphism and the risk of nonsyndromic cleft lip with or without cleft palate in Chinese Han populations: A meta-analysis.
Xia Y, Hu B, Chen J, Zheng L, Song J
Arch Oral Biol 2017 Dec;84:161-168. Epub 2017 Oct 2 doi: 10.1016/j.archoralbio.2017.09.032. PMID: 29017114
BMP4 rs17563 polymorphism and nonsyndromic cleft lip with or without cleft palate: A meta-analysis.
Li YH, Yang J, Zhang JL, Liu JQ, Zheng Z, Hu DH
Medicine (Baltimore) 2017 Aug;96(31):e7676. doi: 10.1097/MD.0000000000007676. PMID: 28767592Free PMC Article
Investigation of FGF1 and FGFR gene polymorphisms in a group of Iranian patients with nonsyndromic cleft lip with or without cleft palate.
Rafiqdoost Z, Rafiqdoost A, Rafiqdoost H, Hashemi M, Khayatzadeh J, Eskandari-Nasab E
Int J Pediatr Otorhinolaryngol 2014 May;78(5):731-6. Epub 2014 Jan 27 doi: 10.1016/j.ijporl.2014.01.024. PMID: 24613087

Therapy

Genetic Risk Assessment of Nonsyndromic Cleft Lip with or without Cleft Palate by Linking Genetic Networks and Deep Learning Models.
Kang G, Baek SH, Kim YH, Kim DH, Park JW
Int J Mol Sci 2023 Feb 25;24(5) doi: 10.3390/ijms24054557. PMID: 36901988Free PMC Article
Current concepts on cleft lip and palate etiology.
Candotto V, Oberti L, Gabrione F, Greco G, Rossi D, Romano M, Mummolo S
J Biol Regul Homeost Agents 2019 May-Jun;33(3 Suppl. 1):145-151. DENTAL SUPPLEMENT. PMID: 31538461
Gene-gene interaction between MSX1 and TP63 in Asian case-parent trios with nonsyndromic cleft lip with or without cleft palate.
Liu D, Schwender H, Wang M, Wang H, Wang P, Zhu H, Zhou Z, Li J, Wu T, Beaty TH
Birth Defects Res 2018 Mar 1;110(4):317-324. Epub 2018 Jan 17 doi: 10.1002/bdr2.1139. PMID: 29341488
Analysis of interactions between genetic variants of BMP4 and environmental factors with nonsyndromic cleft lip with or without cleft palate susceptibility.
Jianyan L, Zeqiang G, Yongjuan C, Kaihong D, Bing D, Rongsheng L
Int J Oral Maxillofac Surg 2010 Jan;39(1):50-6. Epub 2009 Nov 14 doi: 10.1016/j.ijom.2009.10.010. PMID: 19914800
Periconceptional folate intake by supplement and food reduces the risk of nonsyndromic cleft lip with or without cleft palate.
van Rooij IA, Ocké MC, Straatman H, Zielhuis GA, Merkus HM, Steegers-Theunissen RP
Prev Med 2004 Oct;39(4):689-94. doi: 10.1016/j.ypmed.2004.02.036. PMID: 15351534

Prognosis

Genetic Risk Assessment of Nonsyndromic Cleft Lip with or without Cleft Palate by Linking Genetic Networks and Deep Learning Models.
Kang G, Baek SH, Kim YH, Kim DH, Park JW
Int J Mol Sci 2023 Feb 25;24(5) doi: 10.3390/ijms24054557. PMID: 36901988Free PMC Article
Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile.
Salamanca C, González-Hormazábal P, Recabarren AS, Recabarren PA, Pantoja R, Leiva N, Pardo R, Suazo J
Pediatr Res 2021 Mar;89(4):1020-1025. Epub 2020 Jun 3 doi: 10.1038/s41390-020-0994-3. PMID: 32492698
Association Between IRF6 Variants and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.
Suazo J, Recabarren AS, Marín NR, Blanco R
Reprod Sci 2020 Oct;27(10):1857-1862. Epub 2020 Jun 12 doi: 10.1007/s43032-020-00203-9. PMID: 32533457
Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population.
Shibano M, Watanabe A, Takano N, Mishima H, Kinoshita A, Yoshiura KI, Shibahara T
Cleft Palate Craniofac J 2020 Jan;57(1):80-87. Epub 2019 Jul 23 doi: 10.1177/1055665619857650. PMID: 31337262
Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate: Systematic review and meta-analysis.
Wattanawong K, Rattanasiri S, McEvoy M, Attia J, Thakkinstian A
Birth Defects Res A Clin Mol Teratol 2016 Sep;106(9):773-88. Epub 2016 Aug 11 doi: 10.1002/bdra.23540. PMID: 27511269Free PMC Article

Clinical prediction guides

Association Between IRF6 Variants and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.
Suazo J, Recabarren AS, Marín NR, Blanco R
Reprod Sci 2020 Oct;27(10):1857-1862. Epub 2020 Jun 12 doi: 10.1007/s43032-020-00203-9. PMID: 32533457
A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile.
Salamanca C, González-Hormazábal P, Recabarren AS, Recabarren PA, Pantoja R, Leiva N, Pardo R, Suazo J
Oral Dis 2020 Jan;26(1):159-165. Epub 2019 Nov 26 doi: 10.1111/odi.13229. PMID: 31713293
Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population.
Shibano M, Watanabe A, Takano N, Mishima H, Kinoshita A, Yoshiura KI, Shibahara T
Cleft Palate Craniofac J 2020 Jan;57(1):80-87. Epub 2019 Jul 23 doi: 10.1177/1055665619857650. PMID: 31337262
Association between NOGGIN and SPRY2 polymorphisms and nonsyndromic cleft lip with or without cleft palate.
Song T, Shi J, Guo Q, Lv K, Jiao X, Hu T, Sun X, Fu S
Am J Med Genet A 2015 Jan;167A(1):137-41. Epub 2014 Oct 22 doi: 10.1002/ajmg.a.36802. PMID: 25339627
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.
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
Genet Med 2007 Apr;9(4):219-27. doi: 10.1097/gim.0b013e3180423cca. PMID: 17438386Free PMC Article

Recent systematic reviews

Association of Fetal MTHFR 677C > T Polymorphism with Non-Syndromic Cleft Lip with or without Palate Risk: A Systematic Review and Meta-Analysis.
Amooee A, Dastgheib SA, Niktabar SM, Noorishadkam M, Lookzadeh MH, Mirjalili SR, Heiranizadeh N, Neamatzadeh H
Fetal Pediatr Pathol 2021 Aug;40(4):337-353. Epub 2019 Dec 27 doi: 10.1080/15513815.2019.1707918. PMID: 31880477
Potential genetic markers for nonsyndromic oral clefts in the Brazilian population: A systematic review and meta-analysis.
Assis Machado R, de Toledo IP, Martelli-Júnior H, Reis SR, Neves Silva Guerra E, Coletta RD
Birth Defects Res 2018 Jun 1;110(10):827-839. Epub 2018 Feb 15 doi: 10.1002/bdr2.1208. PMID: 29446255
Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate: Systematic review and meta-analysis.
Wattanawong K, Rattanasiri S, McEvoy M, Attia J, Thakkinstian A
Birth Defects Res A Clin Mol Teratol 2016 Sep;106(9):773-88. Epub 2016 Aug 11 doi: 10.1002/bdra.23540. PMID: 27511269Free PMC Article

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